✦ LIBER ✦

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

✍ Scribed by Shirli Israeli; Ziyad Khamaysi; Dana Fuchs-Telem; Janna Nousbeck; Reuven Bergman; Ofer Sarig; Eli Sprecher

Book ID: 113423005
Publisher: American Society of Human Genetics
Year: 2011
Tongue: English
Weight: 849 KB
Volume: 88
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2011.02.011

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A Nonsense Mutation in COQ9 Causes Autos

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

✍ Andrew J. Duncan; Maria Bitner-Glindzicz; Brigitte Meunier; Harry Costello; Iain 📂 Article 📅 2009 🏛 American Society of Human Genetics 🌐 English ⚖ 487 KB

A Mutation in VPS35, Encoding a Subunit

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

✍ Alexander Zimprich; Anna Benet-Pagès; Walter Struhal; Elisabeth Graf; Sebastian 📂 Article 📅 2011 🏛 American Society of Human Genetics 🌐 English ⚖ 308 KB

Autosomal-Recessive Early-Onset Retiniti

Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

✍ Liron Dvir; Gassoub Srour; Rasmi Abu-Ras; Benjamin Miller; Stavit A. Shalev; Tam 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 644 KB

215. Pathogenic effects of novel mutatio

215. Pathogenic effects of novel mutations in ATP13A2 (PARK9) Causing Kufor-Rakeb Syndrome, an Autosomal Recessive Form of Early-onset Parkinsonism

✍ Jin-Sung Park; Neil Manwaring; Victor S. Fung; Carolyn M. Sue 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 40 KB