✦ LIBER ✦

Autosomal recessive juvenile onset cataract associated with mutation inBFSP1

✍ Scribed by Ramya Devi Ramachandran; Vijayalakshmi Perumalsamy; J. Fielding Hejtmancik

Book ID: 106134507
Publisher: Springer
Year: 2007
Tongue: English
Weight: 467 KB
Volume: 121
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-006-0319-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A deletion in DRCTNNB1A associated with

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

✍ Ugur, Sibel Aylin; Tolun, Aslıhan 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 174 KB

Mutation analysis of the parkin gene in

Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism

✍ Sergei N. Illarioshkin; Magali Periquet; Nina Rawal; Christoph B. Lücking; Tatya 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 833 KB

## Abstract Autosomal recessive juvenile parkinsonism (AR‐JP) is a form of hereditary parkinsonism characterized by variable clinical presentations and caused by mutations in a novel gene, __parkin__, on chromosome 6q25.2–27. Until now, no Russian cases of __parkin__‐associated AR‐JP have been repo

A novel missense mutation inMSX1underlie

A novel missense mutation inMSX1underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families

✍ Muhammad S. Chishti; Dost Muhammad; Mahmud Haider; Wasim Ahmad 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 265 KB

COL11A2 mutation associated with autosom

COL11A2 mutation associated with autosomal recessive Weissenbacher–Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)

✍ Tamar Harel; Ronen Rabinowitz; Netta Hendler; Aharon Galil; Hagit Flusser; Juan 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 2 views

A donor splice site mutation in the para

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

✍ Parkinson, David B.; Thakker, Rajesh V. 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 677 KB

Mutation analysis of Parkin, PINK1, DJ-1

Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism

✍ Ji-Feng Guo; Bin Xiao; Bing Liao; Xue-Wei Zhang; Li-Luo Nie; Yu-Hu Zhang; Lu She 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB 👁 1 views

## Abstract Autosomal recessive early‐onset Parkinsonism (AREP) has been associated with mutations in the __Parkin__, __PINK1__, __DJ‐1__, and __ATP13A2__ genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and