Study of CFTR gene mutation in Chinese CUAVD patients

Chinese Journal of Medical Genetics

Volumn 17, Issue 4, 2000, Pages 241-243

  Zeng, G ^a   Mei, H ^a   Zhu, G ^a   Li, M ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Congenital unilateral absence of the vas deferens; Cystic fibrosis transmembrane conductance regulator; Gene mutation; Polymerase chain reaction single strand conformation polymorphism; Sequencing

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CHINESE; CLINICAL ARTICLE; DNA SEQUENCE; EXON; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GONADAL AGENESIS; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; MISSENSE MUTATION; VAS DEFERENS;

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; VAS DEFERENS;

EID: 0033865082     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Congenital unilateral absence of the vas deferens: A heterogeneous disorder with two distinct subpopulations based upon aetiology and mutation status of the cystic fibrosis gene
2. Molecular basis of cystic fibrosis in the Republic of Macedonia
3. The first case of CF in mainland China by DNA analysis
4. Approaches for cystic fibrosis diagnosis