✦ LIBER ✦

No Mutations in the Coding Region of the PRKCG Gene in Three Families with Retinitis Pigmentosa Linked to the RP11 Locus on Chromosome 19q

✍ Scribed by Thaddeus P. Dryja; Jennifer McEvoy; Terri L. McGee; Eliot L. Berson

Book ID: 117852978
Publisher: American Society of Human Genetics
Year: 1999
Tongue: English
Weight: 57 KB
Volume: 65
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302554

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Refinement of the Locus for Autosomal Re

Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin

✍ Shagufta Khaliq; Abdul Hameed; Muhammed Ismail; S. Qasim Mehdi; David A.R. Bessa 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 383 KB

Genetic mapping of RP1 on 8q11-q21 in an

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

✍ Su-Ying Xu; Michael Denton; Lori Sullivan; Stephen P. Daiger; A. Gal 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 44 KB

Identification of three different trunca

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

✍ Stoilov, I 📂 Article 📅 1997 🏛 Oxford University Press 🌐 English ⚖ 192 KB

The coding region of TP53INP2, a gene ex

The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13

✍ Jennifer S. Bennetts; Nanna D. Rendtorff; Fiona Simpson; Lisbeth Tranebjaerg; Ca 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 660 KB