Detection of novel mutations in the SMN Tudor domain in type ISMA patients

被引：36

作者：

Cuscó, I ^{[1
]}

Barceló, MJ ^{[1
]}

del Río, E ^{[1
]}

Baiget, M ^{[1
]}

Tizzano, EF ^{[1
]}

机构：

[1] Univ Hosp Sant Pau, Dept Genet, Barcelona, Spain

来源：

NEUROLOGY | 2004年 / 63卷 / 01期

关键词：

D O I：

10.1212/01.WNL.0000132634.48815.13

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors present a complete SMN gene analysis in four type I unrelated spinal muscular atrophy patients who retained one copy of the SMN1 gene. Two intragenic point mutations were identified in exon 3 ( I116F, Q136E), affecting a very conserved region with the Tudor domain of SMN1. The remaining two patients showed no alterations in the SMN1 coding sequences although a transcription defect was detected in one of them, corroborating the existence of non-functional SMN1 genes.

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页码：146 / 149

页数：4

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