A novel KIT gene missense mutation in a Japanese family with piebaldism

被引:11
作者
Nomura, K
Hatayama, I
Narita, T
Kaneko, T
Shiraishi, M
机构
[1] Aomori Prefectural Cent Hosp, Dept Dermatol, Aomori 030, Japan
[2] Mutsu Gen Hosp, Dept Pathol, Mutsu, Japan
[3] Aomori Prefectural Inst Environm Hlth, Aomori, Japan
关键词
D O I
10.1046/j.1523-1747.1998.00269.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:337 / 338
页数:2
相关论文
共 8 条
[1]  
EZOE K, 1995, AM J HUM GENET, V56, P58
[2]  
FLESCHMAN RA, 1996, J INVEST DERMATOL, V107, P703
[3]   MUTATION OF THE KIT (MAST STEM-CELL GROWTH-FACTOR RECEPTOR) PROTOONCOGENE IN HUMAN PIEBALDISM [J].
GIEBEL, LB ;
SPRITZ, RA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (19) :8696-8699
[4]  
GIEBEL LB, 1992, ONCOGENE, V7, P2207
[5]   A 12-BP DELETION (7818DEL12) IN THE C-KIT PROTOONCOGENE IN A LARGE ITALIAN KINDRED WITH PIEBALDISM [J].
RIVA, P ;
MILANI, N ;
GANDOLFI, P ;
LARIZZA, L .
HUMAN MUTATION, 1995, 6 (04) :343-345
[6]   NOVEL MUTATIONS OF THE KIT (MAST STEM-CELL GROWTH-FACTOR RECEPTOR) PROTOONCOGENE IN HUMAN PIEBALDISM [J].
SPRITZ, RA ;
HOLMES, SA ;
ITIN, P ;
KUSTER, W .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1993, 101 (01) :22-25
[7]  
SPRITZ RA, 1994, J INVEST DERMATOL, V103, pS137
[8]   HUMAN PROTOONCOGENE C-KIT - A NEW CELL-SURFACE RECEPTOR TYROSINE KINASE FOR AN UNIDENTIFIED LIGAND [J].
YARDEN, Y ;
KUANG, WJ ;
YANGFENG, T ;
COUSSENS, L ;
MUNEMITSU, S ;
DULL, TJ ;
CHEN, E ;
SCHLESSINGER, J ;
FRANCKE, U ;
ULLRICH, A .
EMBO JOURNAL, 1987, 6 (11) :3341-3351