MUTATION OF THE ENDOTHELIN-RECEPTOR-B GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE

被引：172

作者：

ATTIE, T

TILL, M

PELET, A

AMIEL, J

EDERY, P

BOUTRAND, L

MUNNICH, A

LYONNET, S

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM,U393,UNITE RECH HANDICAPS GENET ENFANT,F-75743 PARIS 15,FRANCE

[2] HOP NECKER ENFANTS MALAD,SERV GENET MED,F-75743 PARIS 15,FRANCE

[3] HOP DEBROUSSE,SERV PEDIAT & GENET,F-69322 LYON,FRANCE

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 12期

关键词：

D O I：

10.1093/hmg/4.12.2407

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：2407 / 2409

页数：3

共 26 条

[1] WAARDENBURG AND HIRSCHSPRUNG SYNDROMES [J].

AMBANI, LM .

JOURNAL OF PEDIATRICS, 1983, 102 (05) :802-802

[2] EXCLUSION OF RET AND PAX-3 LOCI IN WAARDENBURG-HIRSCHSPRUNG-DISEASE [J].

ATTIE, T ;

TILL, M ;

PELET, A ;

EDERY, P ;

BONNET, JP ;

MUNNICH, A ;

LYONNET, S .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (04) :312-313

[3] DIVERSITY OF RET PROTOONCOGENE MUTATIONS IN FAMILIAL AND SPORADIC HIRSCHSPRUNG DISEASE [J].

ATTIE, T ;

PELET, A ;

EDERY, P ;

ENG, C ;

MULLIGAN, LM ;

AMIEL, J ;

BOUTRAND, L ;

BELDJORD, C ;

NIHOULFEKETE, C ;

MUNNICH, A ;

PONDER, BAJ ;

LYONNET, S .

HUMAN MOLECULAR GENETICS, 1995, 4 (08) :1381-1386

[4]

BADNER JA, 1990, AM J HUM GENET, V46, P568

[5] WAARDENBURG SYNDROME AND HIRSCHSPRUNG DISEASE - EVIDENCE FOR PLEIOTROPIC EFFECTS OF A SINGLE DOMINANT GENE [J].

BADNER, JA ;

CHAKRAVARTI, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (01) :100-104

[6] AN EXONIC MUTATION IN THE HUP2 PAIRED DOMAIN GENE CAUSES WAARDENBURG SYNDROME [J].

BALDWIN, CT ;

HOTH, CF ;

AMOS, JA ;

DASILVA, EO ;

MILUNSKY, A .

NATURE, 1992, 355 (6361) :637-638

[7]

BOLANDE RP, 1973, HUM PATHOL, V5, P409

[8] EXPANDING HORIZONS FOR RECEPTORS COUPLED TO G-PROTEINS - DIVERSITY AND DISEASE [J].

COUGHLIN, SR .

CURRENT OPINION IN CELL BIOLOGY, 1994, 6 (02) :191-197

[9] ASSOCIATED DEVELOPMENTAL ABNORMALITIES OF THE ANTERIOR END OF THE NEURAL CREST - HIRSCHSPRUNGS-DISEASE WAARDENBURGS SYNDROME [J].

CURRIE, ABM ;

HADDAD, M ;

HONEYMAN, M ;

BODDY, SAM .

JOURNAL OF PEDIATRIC SURGERY, 1986, 21 (03) :248-250

[10] MUTATIONS OF THE RET PROTOONCOGENE IN HIRSCHSPRUNGS-DISEASE [J].

EDERY, P ;

LYONNET, S ;

MULLIGAN, LM ;

PELET, A ;

DOW, E ;

ABEL, L ;

HOLDER, S ;

NIHOULFEKETE, C ;

PONDER, BAJ ;

MUNNICH, A .

NATURE, 1994, 367 (6461) :378-380

← 1 2 3 →