Homozygosity of the cystic fibrosis (CF) gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD)

被引：2

作者：

Fokstuen, S

Balakrishnan, J

Kotzot, D

Hergersberg, M

Hobi, C

机构：

[1] Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland

[2] Kantonsspital St Gallen, Urol Klin, St Gallen, Switzerland

来源：

MOLECULAR HUMAN REPRODUCTION | 2000年 / 6卷 / 07期

关键词：

D O I：

10.1093/molehr/6.7.669

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：669 / 670

页数：2

共 6 条

[1] CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS - A PRIMARILY GENITAL FORM OF CYSTIC-FIBROSIS [J].

ANGUIANO, A ;

OATES, RD ;

AMOS, JA ;

DEAN, M ;

GERRARD, B ;

STEWART, C ;

MAHER, TA ;

WHITE, MB ;

MILUNSKY, A .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1992, 267 (13) :1794-1797

[2] MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS [J].

CHILLON, M ;

CASALS, T ;

MERCIER, B ;

BASSAS, L ;

LISSENS, W ;

SILBER, S ;

ROMEY, MC ;

RUIZROMERO, J ;

VERLINGUE, C ;

CLAUSTRES, M ;

NUNES, V ;

FEREC, C ;

ESTIVILL, X .

NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (22) :1475-1480

[3]

Kabra M, 1996, INDIAN J MED RES, V104, P355

[4] Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens [J].

Lissens, W ;

Mahmoud, KZ ;

El-Gindi, E ;

Abdel-Sattar, A ;

Seneca, S ;

Van Steirteghem, A ;

Liebaers, I .

MOLECULAR HUMAN REPRODUCTION, 1999, 5 (01) :10-13

[5]

Suwanjutha Subharee, 1998, Human Mutation, V12, P361

[6] Two novel mutations in a cystic fibrosis patient of Chinese origin [J].

Wagner, JA ;

Vassilakis, A ;

Yee, K ;

Li, M ;

Hurlock, G ;

Krouse, ME ;

Moss, RB ;

Wine, JJ .

HUMAN GENETICS, 1999, 104 (06) :511-515

← 1 →