Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers

Molecular Human Reproduction

Volumn 20, Issue 9, 2014, Pages 827-835

  Sharma, H ^a   Mavuduru, R S ^a   Singh, S K ^a   Prasad, R ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

Congenital absence of the vas deferens; Cystic fibrosis; Genetic modifiers; Male infertility; p. Phe508del mutation

Indexed keywords

CFTR PROTEIN, HUMAN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ENDOTHELIN A RECEPTOR; TGFB1 PROTEIN, HUMAN; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; ALLELE; ALTERNATIVE RNA SPLICING; COHORT ANALYSIS; CONGENITAL MALFORMATION; CYSTIC FIBROSIS; EXON; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETICS; HUMAN; INDIA; INFERTILITY, MALE; INTRON; MALE; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PENETRANCE; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; UROGENITAL TRACT DISEASE; VAS DEFERENS;

ADULT; ALLELES; ALTERNATIVE SPLICING; COHORT STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXONS; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC COUNSELING; HUMANS; INDIA; INFERTILITY, MALE; INTRONS; MALE; MALE UROGENITAL DISEASES; MUTATION; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RECEPTOR, ENDOTHELIN A; TRANSFORMING GROWTH FACTOR BETA1; VAS DEFERENS;

EID: 84906053314     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gau047     Document Type: Article

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