A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism.

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作者信息

Spritz R A, Holmes S A, Berg S Z, Nordlund J J, Fukai K

机构信息

Department of Medical Genetics, University of Wisconsin, Madison 53706.

出版信息

Hum Mol Genet. 1993 Sep;2(9):1499-500. doi: 10.1093/hmg/2.9.1499.

DOI:10.1093/hmg/2.9.1499

PMID:7694728

Abstract

摘要

相似文献

A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism.

Hum Mol Genet. 1993 Sep;2(9):1499-500. doi: 10.1093/hmg/2.9.1499.

Human piebaldism: relationship between phenotype and site of kit gene mutation.人类斑驳病：kit基因突变位点与表型的关系。

Br J Dermatol. 1995 Jun;132(6):929-35. doi: 10.1111/j.1365-2133.1995.tb16951.x.

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.人类斑驳病中KIT（干细胞因子受体）基因的新型突变与缺失

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Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.KIT（肥大细胞/干细胞生长因子受体）原癌基因的突变导致人类斑驳病出现一系列连续的表型。

Am J Hum Genet. 1992 Nov;51(5):1058-65.

Molecular basis of human piebaldism.人类斑驳病的分子基础。

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Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product.在人肥大细胞白血病细胞系中鉴定原癌基因c-kit编码序列中的突变，该突变导致c-kit产物的配体非依赖性激活。

J Clin Invest. 1993 Oct;92(4):1736-44. doi: 10.1172/JCI116761.

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.人类斑驳病中KIT（肥大/干细胞生长因子受体）原癌基因的突变。

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Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.人类斑驳病中c-kit（肥大/干细胞生长因子受体）原癌基因的显性负性突变和功能丧失突变。

Am J Hum Genet. 1992 Feb;50(2):261-9.

Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.人类斑驳病中KIT（肥大/干细胞生长因子受体）原癌基因的新突变。

J Invest Dermatol. 1993 Jul;101(1):22-5. doi: 10.1111/1523-1747.ep12358440.

Sequence of a bovine c-kit proto-oncogene cDNA.牛c-kit原癌基因cDNA序列。

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Curr Oncol. 2023 Oct 3;30(10):8992-9003. doi: 10.3390/curroncol30100649.

Stem cell factor, a novel cutaneous growth factor for mast cells and melanocytes.干细胞因子，一种针对肥大细胞和黑素细胞的新型皮肤生长因子。

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Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.人类斑驳病中KIT（干细胞因子受体）基因的新型突变与缺失

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