𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family

✍ Scribed by Mugen Liu; Xu Wang; Zhou Cai; Zhaohui Tang; Kangsheng Cao; Bo Liang; Xiang Ren; Jing Yu Liu; Qing K. Wang


Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
250 KB
Volume
51
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel compound heterozygous mutations in
✍ Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Sha 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB

## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete

A novel mutation of the ε-sarcoglycan ge
✍ Xue-Ping Chen; Yang-Wei Zhang; Shu-Shan Zhang; Qin Chen; Jean-Marc Burgunder; Sh 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 418 KB

## Abstract In a Chinese myoclonus‐dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the ε‐sarcoglycan (__SGCE__) gene, leading to a frameshift wi