Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

被引：40

作者：

Baumber, L

Tufarelli, C

Patel, S

King, P

Johnson, CA

Maher, ER

Trembath, RC

机构：

[1] Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

[2] Univ Leicester, Dept Cardiovasc Sci, Leicester LE1 7RH, Leics, England

[3] Univ Hosp Leicester NHS Trust, Leicestershire Genet Ctr, Leicester, Leics, England

[4] Derby Royal Infirm, Derby, England

[5] Univ Birmingham, Sch Med, Dept Paediat & Child Hlth, Sect Med & Mol Genet, Birmingham, W Midlands, England

来源：

JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷 / 05期

关键词：

D O I：

10.1136/jmg.2004.026898

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：443 / 448

页数：6

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