A 12-BP DELETION (7818DEL12) IN THE C-KIT PROTOONCOGENE IN A LARGE ITALIAN KINDRED WITH PIEBALDISM

被引：9

作者：

RIVA, P

MILANI, N

GANDOLFI, P

LARIZZA, L

机构：

[1] UNIV MILAN,FAC MED,DEPT BIOL & GENET,MILAN,ITALY

[2] CTR BIOMED BERGAMASCO,BERGAMO,ITALY

来源：

HUMAN MUTATION | 1995年 / 6卷 / 04期

关键词：

D O I：

10.1002/humu.1380060409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：343 / 345

页数：3

共 16 条

[1] AN SSTI RFLP AT THE C-KIT ONCOGENE LOCUS (KIT) [J].

CURTIS, D .

NUCLEIC ACIDS RESEARCH, 1991, 19 (06) :1352-1352

[2] HUMAN PIEBALD TRAIT RESULTING FROM A DOMINANT NEGATIVE MUTANT ALLELE OF THE C-KIT MEMBRANE-RECEPTOR GENE [J].

FLEISCHMAN, RA .

JOURNAL OF CLINICAL INVESTIGATION, 1992, 89 (06) :1713-1717

[3] FROM WHITE SPOTS TO STEM-CELLS - THE ROLE OF THE KIT RECEPTOR IN MAMMALIAN DEVELOPMENT [J].

FLEISCHMAN, RA .

TRENDS IN GENETICS, 1993, 9 (08) :285-290

[4] DELETION OF THE C-KIT PROTOONCOGENE IN THE HUMAN DEVELOPMENTAL DEFECT PIEBALD TRAIT [J].

FLEISCHMAN, RA ;

SALTMAN, DL ;

STASTNY, V ;

ZNEIMER, S .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (23) :10885-10889

[5] 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

[6]

KRAWCZAK M, 1991, HUM GENET, V86, P425

[7] PIEBALDISM, WAARDENBURGS SYNDROME, AND RELATED DISORDERS - NEURAL CREST DEPIGMENTATION SYNDROMES [J].

ORTONNE, JP .

DERMATOLOGIC CLINICS, 1988, 6 (02) :205-216

[8]

SPRITZ RA, 1992, AM J HUM GENET, V51, P1058

[9] 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

[10]

SPRITZ RA, 1992, AM J HUM GENET, V50, P261

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