The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing

Journal of Molecular Diagnostics

Volumn 18, Issue 1, 2016, Pages 39-50

  Schrijver, Iris ^a,b   Pique, Lynn ^a   Graham, Steve ^c   Pearl, Michelle ^d   Cherry, Athena ^a,b   Kharrazi, Martin ^c  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^c CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^d Sequoia Foundation   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

AFRICAN; AMERICAN INDIAN; ARTICLE; ASIAN; BLACK PERSON; CYSTIC FIBROSIS; DNA SEQUENCE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HISPANIC; INDIAN; UNITED STATES; AFRICAN AMERICAN; ALLELE; ASIAN CONTINENTAL ANCESTRY GROUP; CAUCASIAN; CROSS-SECTIONAL STUDY; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIATION; GENETICS; GENOTYPING TECHNIQUE; HUMAN; MOLECULAR DIAGNOSIS; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PROCEDURES;

AFRICAN AMERICANS; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CROSS-SECTIONAL STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC TESTING; GENETIC VARIATION; GENOTYPING TECHNIQUES; HISPANIC AMERICANS; HUMANS; INFANT, NEWBORN; MOLECULAR DIAGNOSTIC TECHNIQUES; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; SEQUENCE ANALYSIS, DNA; UNITED STATES;

EID: 84954040993     PISSN: 15251578     EISSN: 19437811     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2015.07.005     Document Type: Article

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