Cystic fibrosis with homozygous R553X mutation in a Taiwanese child

Journal of Human Genetics

Volumn 50, Issue 12, 2005, Pages 674-678

  Chen, Hui Ju ^a   Lin, Shuan Pei ^a,b,c   Lee, Hung Chang ^a,d   Chen, Chih Ping ^a   Chiu, Nan Chang ^a,b   Hung, Han Yang ^a   Chern, Schu Rern ^a   Chuang, Chih Kuang ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^c Taipei Institute of Pathology   (Taiwan)

^d TAIPEI MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Cystic fibrosis; Cystic fibrosis transmembrane receptor; Homozygous R553X; Taiwan

Indexed keywords

ARTICLE; BRONCHIECTASIS; CASE REPORT; CAUCASIAN; CHRONIC DIARRHEA; CHRONIC DISEASE; CYSTIC FIBROSIS; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; FAILURE TO THRIVE; GENE MUTATION; HOMOZYGOTE; HUMAN; HYPOXEMIA; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PANCREAS INSUFFICIENCY; PRESCHOOL CHILD; RESPIRATORY TRACT INFECTION; TAIWAN;

CHILD, PRESCHOOL; CODON, NONSENSE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; GENOTYPE; HOMOZYGOTE; HUMANS; LUNG; MALE; TAIWAN; TOMOGRAPHY, X-RAY COMPUTED;

EID: 28844452114     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0309-x     Document Type: Article

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