Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

Journal of Pediatrics

Volumn 181, Issue , 2017, Pages S27-S32.e1

  Sosnay, Patrick R ^a   Salinas, Danieli B ^b   White, Terry B ^c   Ren, Clement L ^d   Farrell, Philip M ^e   Raraigh, Karen S ^a   Girodon, Emmanuelle ^f   Castellani, Carlo ^g  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c CYSTIC FIBROSIS FOUNDATION   (United States)

^d INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^f Johns Hopkins University ^*  (France)

^g UNIVERSITY HOSPITAL OF VERONA   (Italy)

Author keywords

CFTR genetic testing; CFTR mutations; CFTR related disorder; cystic fibrosis; genotype; genotype phenotype correlation mutation; MVCC; penetrance; variant

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CALIFORNIA; CONSENSUS; CYSTIC FIBROSIS; DELPHI STUDY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; PENETRANCE; PHENOTYPE; PRACTICE GUIDELINE; PRIORITY JOURNAL; GENETICS; MUTATION; NEWBORN; NEWBORN SCREENING;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING;

EID: 85010461752     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2016.09.063     Document Type: Article

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