Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients

Genetics in Medicine

Volumn 19, Issue 1, 2017, Pages 36-44

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

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^c Sequoia Foundation   (United States)

Author keywords

CFTR; cystic fbrosis; mutation detection; newborn screening; nonwhite

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

AFRICAN; ALGORITHM; AMERICAN INDIAN; ARTICLE; ASIAN; BLACK PERSON; CAUCASIAN; CROSS-SECTIONAL STUDY; CYSTIC FIBROSIS; EVALUATION STUDY; GENOTYPE; HISPANIC; HUMAN; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; UNITED STATES; AFRICAN AMERICAN; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC SCREENING; GENETICS; MALE; MUTATION; PATHOLOGY;

AFRICAN AMERICANS; ASIAN CONTINENTAL ANCESTRY GROUP; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC TESTING; GENOTYPE; HISPANIC AMERICANS; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING;

EID: 85009164469     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.48     Document Type: Article

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