Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens-Reference-Cited by-同舟云学术

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

Published:2000-07 Issue:7 Volume:15 Page:1476-1483
ISSN:1460-2350
Container-title:Human Reproduction
language:en
Short-container-title:

Author:

Casals Teresa,Bassas Lluís,Egozcue Susanna,Ramos Maria D.,Giménez Javier,Segura Ana,Garcia Ferran,Carrera Marta,Larriba Sara,Sarquella Joaquim,Estivill Xavier

Publisher

Oxford University Press (OUP)

Subject

Obstetrics and Gynaecology,Rehabilitation,Reproductive Medicine

Reference37 articles.

1. Anguiano, A., Oates, R.D., Amos, J.A. et al. (1992) Congenital bilateral absence of vas deferens: a primarily genital form of cystic fibrosis. JAMA, 267, 1794–1797.

2. Augarten, A., Yahav, Y., Kerem, B.S. et al. (1994) Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet, 344, 1473–1474.

3. Casals, T., Bassas, Ll., Ruiz-Romero, J. et al. (1995) Extensive analysis of 40 infertile patients with congenital absence of vas deferens: in 50% of cases only one CFTR allele could be detected. Hum. Genet., 95, 205–211.

4. Casals, T., Ramos, M.D., Giménez, J. et al. (1997) High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Hum. Genet., 101, 365–370.

5. Chillón, M., Casals, T., Giménez, J. et al. (1994) Analysis of the CFTR gene in the Spanish population: SSCP screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1G→A and 3667del4). Hum. Mutat., 3, 223–230.

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