✦ LIBER ✦

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

✍ Scribed by Zahid Azeem; Musharraf Jelani; Gul Naz; Muhammad Tariq; Naveed Wasif; Syed Kamran-ul-Hassan Naqvi; Muhammad Ayub; Masoom Yasinzai; Muhammad Amin-ud-din; Abdul Wali; Ghazanfar Ali; Muhammad Salman Chishti; Wasim Ahmad

Book ID: 106134693
Publisher: Springer
Year: 2008
Tongue: English
Weight: 425 KB
Volume: 123
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-008-0507-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the P2RY5 gene underlie aut

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families

✍ M. Tariq; M. Ayub; M. Jelani; S. Basit; G. Naz; N. Wasif; S.I. Raza; A.K. Naveed 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 544 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

Novel mutations in the EDAR gene in two

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia

✍ M. Naeem; D. Muhammad; W. Ahmad 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 282 KB

Identification of 45 novel mutations in

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

✍ Vilma-Lotta Lehtokari; Katarina Pelin; Maria Sandbacka; Salla Ranta; Kati Donner 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 375 KB 👁 1 views

Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebu