Effect of the c-kit codon 584 Phe----Leu substitution demonstrated in human piebaldism.
作者信息
Fleischman R A
出版信息
Am J Hum Genet. 1992 Sep;51(3):677-8.
Abstract
摘要
相似文献
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Effect of the c-kit codon 584 Phe----Leu substitution demonstrated in human piebaldism.c-kit密码子584处苯丙氨酸至亮氨酸的替换在人类斑驳病中的作用。
Am J Hum Genet. 1992 Sep;51(3):677-8.
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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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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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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。
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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。
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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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Deletion of the c-kit protooncogene in the human developmental defect piebald trait.人类发育缺陷斑驳性状中c-kit原癌基因的缺失。
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Molecular basis of human piebaldism.人类斑驳病的分子基础。
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本文引用的文献
1
Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W.小鼠c-kit/白斑位点显性负性和功能丧失突变的分子基础：W37、Wv、W41和W
EMBO J. 1990 Jun;9(6):1805-13. doi: 10.1002/j.1460-2075.1990.tb08305.x.
2
W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor.患有轻度或严重发育缺陷的W突变小鼠在c-kit受体的激酶结构域中存在不同的点突变。
Genes Dev. 1990 Mar;4(3):390-400. doi: 10.1101/gad.4.3.390.
3
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.由c-kit膜受体基因的显性负性突变等位基因导致的人类花斑性状。
J Clin Invest. 1992 Jun;89(6):1713-7. doi: 10.1172/JCI115772.
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