✦ LIBER ✦

The Human Gene Mutation Database: 2008 update

✍ Scribed by Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick ST Thomas; David N Cooper

Book ID: 115474019
Publisher: BioMed Central
Year: 2009
Tongue: English
Weight: 76 KB
Volume: 1
Category: Article
ISSN: 1756-994X
DOI: 10.1186/gm13

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Human Gene Mutation Database (HGMD®): 20

Human Gene Mutation Database (HGMD®): 2003 update

✍ Peter D. Stenson; Edward V. Ball; Matthew Mort; Andrew D. Phillips; Jacqueline A 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB

The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line mutations in nuclear genes underlying or associated with human inherited disease (www.hgmd.org). Data catalogued includes: single base-pair substitutions in coding, regulatory and splicing-releva

The human gene mutation database

✍ Michael Krawczak; David N. Cooper 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 240 KB

Human Gene Mutation Database

✍ D. N. Cooper; Michael Krawczak 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 13 KB

The human TBX5 gene mutation database

✍ Wolfram Heinritz; Lin Shou; Andre Moschik; Ursula G. Froster 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB

Germline mutations of the TBX5 gene were identified as the primary cause in up to 70 % of patients with Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by malformations of the upper limbs and cardiac defects. Furthermore, somatic mutations of the TBX5 gene have been described

Update of the androgen receptor gene mut

Update of the androgen receptor gene mutations database

✍ Bruce Gottlieb; Lenore K. Beitel; Rose Lumbroso; Leonard Pinsky; Mark Trifiro 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 380 KB 👁 2 views

The current version of the androgen receptor (AR) gene mutations database is described. The total number of reported mutations has risen from 309 to 374 during the past year. We have expanded the database by adding information on AR-interacting proteins; and we have improved the database by identify

The androgen receptor gene mutations dat

The androgen receptor gene mutations database: 2012 update

✍ Bruce Gottlieb; Lenore K. Beitel; Abbesha Nadarajah; Miltiadis Paliouras; Mark T 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 182 KB

The current version of the androgen receptor gene (AR) mutations database is described. A major change to the database is that the nomenclature and numbering scheme now conforms to all Human Genome Variation Society norms. The total number of reported mutations has risen from 605 to 1,029 since 2004