A novel KIT gene missense mutation in a Japanese family with piebaldism [1]

Journal of Investigative Dermatology

Volumn 111, Issue 2, 1998, Pages 337-338

  Nomura, K ^a   Hatayama, I ^a   Narita, T ^a   Kaneko, T ^a   Siairaishi, M ^a  

^a AOMORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

HETERODUPLEX; PROTEIN TYROSINE KINASE; STEM CELL FACTOR;

ALLELE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; FEMALE; HUMAN; JAPAN; LETTER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PIEBALDISM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTO ONCOGENE; SKIN PIGMENTATION;

EID: 0031902240     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00269.x     Document Type: Letter

References (8)

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2. R.A. Fleschman T. Gallard X. Mi Mutations in the ligand-binding domain of the Kit receptor: An uncommaon site in human piebaldism J Invest Dermatol 107 1996 703 706
3. L.B. Giebel R.A. Spritz Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism Proc Natl Acad Sci USA 88 1991 8696 8699
4. L.B. Giebel K.M. Strunk S.A. Holmes R.A. Spritz Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene Oncogene 7 1992 2207 2217
5. P. Riva N. Milani P. Gandorfi L. Larizza A 12-bp deletion (7818dell.2) in the c-kit protooncogene in a large Italian kindred with piebaldism Hum Mutation 6 1995 343 345
6. R.A. Spritz Molecular basis of human piebaldism J Invest Dermatol 103 Suppl 1994 137S 140S
7. R.A. Spritz S.A. Holmes P. Itin W. Kuster Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism J Invest Dermatol 101 1993 22 25
8. Y. Yarden W.-J. Kuang T. Yang-feng Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand Embo J 11 1987 3341 3351