A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens

Fertility and Sterility

Volumn 83, Issue 2, 2005, Pages 448-451

  Grangeia, Ana ^a   Carvalho, Filipa ^a   Fernandes, Susana ^a   Silva, Joaquina ^b   Sousa, Mário ^a,b   Barros, Alberto ^a,b  

^a University of Porto   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

Author keywords

CBAVD; CFTR; Cystic fibrosis; DGGE; IVS8 T; Male infertility

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; AGENESIS; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA POLYMORPHISM; EXON; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MALE; MALE GENITAL SYSTEM DISEASE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; VAS DEFERENS;

EID: 13544251608     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2004.07.967     Document Type: Article

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