A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome.
作者信息
Ghahremani M, Chan C B, Bistritzer T, Aladjem M M, Tieder M, Pelletier J
机构信息
Department of Biochemistry, McGill University, Montreal, Canada.
出版信息
Hum Hered. 1996 Nov-Dec;46(6):336-8. doi: 10.1159/000154374.
PMID:8956030
Abstract
摘要
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A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome.
Hum Hered. 1996 Nov-Dec;46(6):336-8. doi: 10.1159/000154374.
2
A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome.在无泌尿生殖系统异常的散发性肾母细胞瘤中，WT1基因发现的一个点突变与Denys-Drash综合征中最常见的点突变相同。
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Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.威尔姆斯肿瘤抑制基因的种系突变与迪尼-德拉斯综合征患者泌尿生殖系统发育异常有关。
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Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.基于长期保存组织对先天性肾病综合征诊断的优化：c.1097G>A（p.(Arg366His)）WT1突变导致迪尼-德拉斯综合征
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