Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length

Genetic Testing and Molecular Biomarkers

Volumn 20, Issue 9, 2016, Pages 496-503

  Salinas, Danieli Barino ^a   Azen, Colleen ^a   Young, Suzanne ^b   Keens, Thomas G ^a   Kharrazi, Martin ^c   Parad, Richard B ^d  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b Sequoia Foundation   (United States)

^c CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

ALLELE; ARTICLE; CALIFORNIA; CFTR GENE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CYSTIC FIBROSIS; DINUCLEOTIDE REPEAT; DISEASE COURSE; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; METABOLIC SYNDROME X; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SEQUENCE ANALYSIS; SWEAT TEST; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION;

ALLELES; CALIFORNIA; CHILD, PRESCHOOL; COHORT STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DINUCLEOTIDE REPEATS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 84988365235     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2016.0102     Document Type: Article

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