Benign and deleterious cystic fibrosis transmembrane conductance regulator mutations identified by sequencing in positive cystic fibrosis newborn screen children from California

PLoS ONE

Volumn 11, Issue 5, 2016, Pages

  Salinas, Danieli B ^a   Sosnay, Patrick R ^b   Azen, Colleen ^a   Young, Suzanne ^c   Raraigh, Karen S ^b   Keens, Thomas G ^a   Kharrazi, Martin ^d  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

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

^c Sequoia Foundation   (United States)

^d CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; BACTERIAL COLONIZATION; CFTR GENE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE REGISTRY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INFANT; INTRON; LUNG FIBROSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PSEUDOMONAS AERUGINOSA; RETROSPECTIVE STUDY; SEX DIFFERENCE; UNITED STATES; CALIFORNIA; DNA MUTATIONAL ANALYSIS; DNA SEQUENCE; FOLLOW UP; GENETIC SCREENING; GENETICS; MUTATION; PRESCHOOL CHILD;

CALIFORNIA; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA;

EID: 84971280917     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0155624     Document Type: Article

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