✦ LIBER ✦

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

✍ Scribed by Dikla Bandah-Rozenfeld; Rob W.J. Collin; Eyal Banin; L. Ingeborgh van den Born; Karlien L.M. Coene; Anna M. Siemiatkowska; Lina Zelinger; Muhammad I. Khan; Dirk J. Lefeber; Inbar Erdinest; Francesco Testa; Francesca Simonelli; Krysta Voesenek; Ellen A.W. Blokland; Tim M. Strom; Caroline C.W. Klaver; Raheel Qamar; Sandro Banfi; Frans P.M. Cremers; Dror Sharon; Anneke I. den Hollander

Book ID: 113422886
Publisher: American Society of Human Genetics
Year: 2010
Tongue: English
Weight: 1013 KB
Volume: 87
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.07.004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in C2ORF71 Cause Autosomal-Rec

Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

✍ Rob W.J. Collin; Christine Safieh; Karin W. Littink; Stavit A. Shalev; Hanna J. 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 715 KB

CC2D2A, Encoding A Coiled-Coil and C2 Do

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

✍ Abdul Noor; Christian Windpassinger; Megha Patel; Beata Stachowiak; Anna Mikhail 📂 Article 📅 2008 🏛 American Society of Human Genetics 🌐 English ⚖ 32 KB

Mutation in NSUN2, which Encodes an RNA

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

✍ Muzammil Ahmad Khan; Muhammad Arshad Rafiq; Abdul Noor; Shobbir Hussain; Joana V 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 807 KB

Hypomorphic Mutations in PGAP2, Encoding

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

✍ Hansen, Lars; Tawamie, Hasan; Murakami, Yoshiko; Mang, Yuan; ur Rehman, Shoaib; 📂 Article 📅 2013 🏛 American Society of Human Genetics 🌐 English ⚖ 836 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

Mutations in CABP4, the Gene Encoding th

Mutations in CABP4, the Gene Encoding the Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness

✍ Christina Zeitz; Barbara Kloeckener-Gruissem; Ursula Forster; Susanne Kohl; Istv 📂 Article 📅 2006 🏛 American Society of Human Genetics 🌐 English ⚖ 797 KB