Clinical Chemistry Link to Randox Laboratories Web Site
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 41: 833-835, 1995;
This Article
Right arrow Full Text (PDF)
Right arrow Submit an electronic Letter to
the Editor about this paper
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Jezequel, P.
Right arrow Articles by Blayau, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Jezequel, P.
Right arrow Articles by Blayau, M.

Clinical Chemistry, Vol 41, 833-835, Copyright © 1995 by American Association for Clinical Chemistry

Structural analysis of CFTR gene in congenital bilateral absence of vas deferens

P Jezequel, I Dorval, P Fergelot, B Chauvel, A Le Treut, JY Le Gall, D Le Lannou and M Blayau
Laboratoire de Genetique Moleculaire, C.H.U. Pontchaillou, Rennes, France.

Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G --> T (1 case), and A1067V (1 case). Except for delta F508, the most frequent mutations (R117H, R1070W) were not observed in the CF group (109 patients) studied in our laboratory. We discuss the significance of these results.


The following articles in journals at HighWire Press have cited this article:


Home page
 Mol Hum ReprodHome page
P. Jezequel, C. Dubourg, D. Le Lannou, S. Odent, J.-Y. Le Gall, M. Blayau, A. Le Treut, and V. David
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations
Mol. Hum. Reprod., December 1, 2000; 6(12): 1063 - 1067.
[Abstract] [Full Text] [PDF]

Home page
 JAMAHome page
V. Mak, J. Zielenski, L.-C. Tsui, P. Durie, A. Zini, S. Martin, T. B. Longley, and K. A. Jarvi
Proportion of Cystic Fibrosis Gene Mutations Not Detected by Routine Testing in Men With Obstructive Azoospermia
JAMA, June 16, 1999; 281(23): 2217 - 2224.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
P. M. Strasberg, D. Noreau, L. McGlynn-Steele, G. Koultchitski, and P. N. Ray
PCR-Based Test for Two Cystic Fibrosis Mutations (A455E, 711+1 G->T) Common Among French Canadians
Clin. Chem., June 1, 1997; 43(6): 1083 - 1084.
[Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1995 by the American Association for Clinical Chemistry.