{"id":"https://openalex.org/W1027018876","doi":null,"title":"CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.","display_name":"CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.","publication_year":2010,"publication_date":"2010-11-01","ids":{"openalex":"https://openalex.org/W1027018876","mag":"1027018876","pmid":"https://pubmed.ncbi.nlm.nih.gov/21416780"},"language":"en","primary_location":{"id":"pmid:21416780","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21416780","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5048649116","display_name":"Margarita Ch\u00e1vez\u2010Salda\u00f1a","orcid":"https://orcid.org/0000-0003-0820-0296","observed_orcids":["https://orcid.org/0000-0003-0820-0296"]},"institutions":[{"id":"https://openalex.org/I4210146908","display_name":"Instituto Nacional de Pediatria","ror":"https://ror.org/05adj5455","country_code":"MX","type":"facility","lineage":["https://openalex.org/I4210146908"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Margarita Ch\u00e1vez-Salda\u00f1a","raw_affiliation_strings":["Subdirecci\u00f3n de Medicina Experimental, Instituto Nacional de Pediatr\u00eda, Coyoac\u00e1n, M\u00e9xico, DF. mchavez_s2003@yahoo.com.mx"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Subdirecci\u00f3n de Medicina Experimental, Instituto Nacional de Pediatr\u00eda, Coyoac\u00e1n, M\u00e9xico, DF. mchavez_s2003@yahoo.com.mx","institution_ids":["https://openalex.org/I4210146908"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020004218","display_name":"Emiy Yokoyama","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Emiy Yokoyama","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160530660","display_name":"Jos\u00e9 Luis Lezana","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Luis Lezana","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024500349","display_name":"Alessandra Carnevale","orcid":"https://orcid.org/0000-0003-4511-4557","observed_orcids":["https://orcid.org/0000-0003-4511-4557"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alessandra Carnevale","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103215731","display_name":"Miguel Mac\u00edas","orcid":"https://orcid.org/0000-0002-0934-5748","observed_orcids":["https://orcid.org/0000-0002-0934-5748"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Miguel Mac\u00edas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060183734","display_name":"Rosa Mar\u00eda Vigueras","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rosa M Vigueras","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148661481","display_name":"Marisol L\u00f3pez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marisol L\u00f3pez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5069924504","display_name":"Lorena Orozco","orcid":"https://orcid.org/0000-0002-5801-9180","observed_orcids":["https://orcid.org/0000-0002-5801-9180","https://orcid.org/0000-0002-1250-1203"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lorena Orozco","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":14,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"62","issue":"6","first_page":"546","last_page":"52"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cystic-fibrosis","display_name":"cystic fibrosis","score":1.0},{"id":"https://openalex.org/keywords/cftr-mutations","display_name":"CFTR mutations","score":0.9290000200271606},{"id":"https://openalex.org/keywords/allelic-heterogeneity","display_name":"allelic heterogeneity","score":0.9190000295639038},{"id":"https://openalex.org/keywords/mutation-detection","display_name":"mutation detection","score":0.6029999852180481},{"id":"https://openalex.org/keywords/mexican-population","display_name":"Mexican population","score":0.718999981880188},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6019999980926514},{"id":"https://openalex.org/keywords/cftr-gene","display_name":"CFTR gene","score":0.39500001072883606},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.375}],"concepts":[{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.4870055317878723},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4694606363773346},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4608589708805084},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.25232595205307007},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.14180567860603333}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007198","descriptor_name":"Indians, North American","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008800","descriptor_name":"Mexico","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019005","descriptor_name":"Cystic Fibrosis Transmembrane Conductance Regulator","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmid:21416780","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21416780","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion","raw_type":"Journal Article"},{"id":"mag:1027018876","doi":null,"is_oa":false,"landing_page_url":"https://dialnet.unirioja.es/servlet/articulo?codigo=4383042","pdf_url":null,"source":{"id":"https://openalex.org/S836864","display_name":"Revista de investigaci\ufffdn Cl\ufffdnica","issn_l":"0034-8376","issn":["0034-8376","2564-8896"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","latindex","medline","norway-1","oarl","poland-40","russia-white-list-1","scielo"],"host_organization":"https://openalex.org/P4323253458","host_organization_name":"Permanyer","host_organization_lineage":["https://openalex.org/P4323253458"],"host_organization_lineage_names":["Permanyer"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Revista de investigaci\ufffdn Cl\ufffdnica","raw_type":null},{"id":"mag:2100245818","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21416780","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1483242733","https://openalex.org/W1552358301","https://openalex.org/W1568073654","https://openalex.org/W1569889290","https://openalex.org/W1600410078","https://openalex.org/W1793879030","https://openalex.org/W1946951765","https://openalex.org/W1980106563","https://openalex.org/W1983530499","https://openalex.org/W1985324324","https://openalex.org/W1991618293","https://openalex.org/W1996027687","https://openalex.org/W2009512908","https://openalex.org/W2016747288","https://openalex.org/W2029522824","https://openalex.org/W2034530006","https://openalex.org/W2055076912","https://openalex.org/W2061622181","https://openalex.org/W2061750255","https://openalex.org/W2066427455","https://openalex.org/W2085663482","https://openalex.org/W2106666022","https://openalex.org/W2122385641","https://openalex.org/W2145037428","https://openalex.org/W2159746250","https://openalex.org/W2171642430","https://openalex.org/W2918116561","https://openalex.org/W3106798016"],"related_works":["https://openalex.org/W2340493585","https://openalex.org/W7001040157","https://openalex.org/W3151415891","https://openalex.org/W6981695074","https://openalex.org/W2791699369","https://openalex.org/W2989552767","https://openalex.org/W2507899902","https://openalex.org/W362622080","https://openalex.org/W1833119495","https://openalex.org/W6991111857"],"abstract_inverted_index":{"INTRODUCTION:":[0],"Cystic":[1],"fibrosis,":[2],"the":[3,14,36,53,84,98,104,112,128,142,161,198,211,264,274,287],"most":[4],"common":[5],"autosomal":[6],"recessive":[7],"disorder,":[8],"is":[9],"caused":[10],"by":[11],"defects":[12],"in":[13,56,97,119,202,244,253,282],"CF":[15,65,118,132,165,199],"transmembrane":[16],"conductance":[17],"regulator":[18],"gene":[19,38,106],"(CFTR)":[20],"that":[21,259],"encodes":[22],"a":[23,42,48,91,169,176,188,203],"chloride":[24],"channel.":[25],"To":[26],"date,":[27],"over":[28],"1,800":[29],"mutations":[30,62,96,174,208,216,240,269,281],"have":[31,241,248],"been":[32,242,251],"described":[33],"related":[34],"to":[35,107,136,146,159],"causative":[37],"of":[39,52,64,94,103,111,130,164,190,196,205,213,263,267,273,279,289],"CF,":[40],"showing":[41],"variable":[43],"frequency":[44],"among":[45],"populations.":[46],"In":[47,125],"previous":[49],"extensive":[50],"analysis":[51],"CFTR":[54,105,268,280],"locus":[55],"97":[57,143],"Mexican":[58,99,120,254],"patients,":[59],"34":[60],"different":[61,207],"(75%":[63],"alleles)":[66],"were":[67,157],"found":[68],"using":[69,187],"several":[70],"strategies":[71,192],"for":[72,117,172,293],"mutation":[73],"screening;":[74],"however,":[75],"63%":[76,148],"had":[77],"at":[78,150],"least":[79,151],"an":[80,152],"uncharacterized":[81,153],"allele.":[82,154],"Despite":[83],"combined":[85],"technologies":[86],"used,":[87],"there":[88],"are":[89],"still":[90],"great":[92],"number":[93,129],"unknown":[95],"population.":[100],"OBJECTIVE:":[101],"Screening":[102],"provide":[108],"additional":[109,215],"evidence":[110],"mutational":[113],"wide":[114],"spectrum":[115],"responsible":[116],"patients.":[121,255],"MATERIAL":[122],"AND":[123],"METHODS:":[124],"this":[126,283],"study,":[127],"unrelated":[131],"patients":[133],"was":[134],"increased":[135],"230,":[137],"133":[138],"new":[139],"cases":[140],"and":[141,182,232,235,276,295],"previously":[144],"reported":[145,243,252],"include":[147],"with":[149],"Additional":[155],"tools":[156],"used":[158],"improve":[160],"detection":[162],"rate":[163],"mutations,":[166],"such":[167],"as":[168],"commercial":[170],"kit":[171],"36":[173],"plus":[175],"single":[177],"chain":[178],"conformational":[179],"polymorphism":[180],"method":[181],"DNA":[183],"sequencing.":[184],"RESULTS:":[185],"By":[186],"combination":[189],"these":[191,238],"we":[193],"characterized":[194],"77.7%":[195],"all":[197],"alleles,":[200],"resulting":[201],"total":[204],"46":[206],"detected,":[209],"including":[210],"identification":[212],"12":[214,239],"(p.R334W,":[217],"p.A455E,":[218],"c.3120+1G":[219],">":[220,223,226],"A,":[221],"c.3272-26A":[222],"G,":[224],"c.711+1G":[225],"T,":[227],"p.Q552X,":[228],"p.W1282X,":[229],"c.IVS8-5T,":[230],"p.R1162X":[231],"p.R347P,":[233],"p.D1152H":[234],"p.T1036N).":[236],"Although":[237],"other":[245],"populations,":[246],"they":[247],"not":[249],"yet":[250],"This":[256],"report":[257],"shows":[258],"Mexico":[260],"has":[261],"one":[262],"widest":[265],"spectra":[266],"worldwide.":[270],"The":[271],"knowledge":[272],"ethnic":[275],"geographic":[277],"distribution":[278],"population":[284],"will":[285],"allow":[286],"development":[288],"more":[290],"effective":[291],"methods":[292],"diagnosis":[294],"treatment.":[296]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
