✦ LIBER ✦

A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp

✍ Scribed by S. Nahum; F. Morice-Picard; A. Taieb; E. Sprecher

Book ID: 108696820
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 399 KB
Volume: 36
Category: Article
ISSN: 0307-6938
DOI: 10.1111/j.1365-2230.2010.03944.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the LPAR6 and LIPH genes un

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan

✍ S. Khan; R. Habib; H. Mir; Umm-e-Kalsoom; G. Naz; M. Ayub; S. Shafique; T. Yam 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB

A mutation in the lipase H (LIPH) gene u

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis

✍ Ghazanfar Ali; Muhammad Salman Chishti; Syed Irfan Raza; Peter John; Wasim Ahmad 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 466 KB

A novel deletion mutation in the phospho

A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2)

✍ S. Kamran-ul-Hassan Naqvi; S.I. Raza; A.K. Naveed; P. John; W. Ahmad 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 242 KB

Mutations in PEX10 are a cause of autoso

Mutations in PEX10 are a cause of autosomal recessive ataxia

✍ Luc Régal; Merel S. Ebberink; Nathalie Goemans; Ronald J. A. Wanders; Linda De M 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 1 views

A loss of function mutation in the COL9A

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

✍ Stuart Baker; Carol Booth; Corrine Fillman; Michael Shapiro; Michael P. Blair; J 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 561 KB

Characterization of six novel mutations

Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease

✍ Shahram Teimourian; Elham Zomorodian; Mohsen Badalzadeh; AliReza Pouya; Caroline 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB