✦ LIBER ✦

Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation

✍ Scribed by Patrick S. Tarpey; Claire Stevens; Jon Teague; Sarah Edkins; Sarah O’Meara; Tim Avis; Syd Barthorpe; Gemma Buck; Adam Butler; Jennifer Cole; Ed Dicks; Kristian Gray; Kelly Halliday; Rachel Harrison; Katy Hills; Jonathon Hinton; David Jones; Andrew Menzies; Tatiana Mironenko; Janet Perry; Keiran Raine; David Richardson; Rebecca Shepherd; Alexandra Small; Calli Tofts; Jennifer Varian; Sofie West; Sara Widaa; Andy Yates; Rachael Catford; Julia Butler; Uma Mallya; Jenny Moon; Ying Luo; Huw Dorkins; Deborah Thompson; Douglas F. Easton; Richard Wooster; Martin Bobrow; Nancy Carpenter; Richard J. Simensen; Charles E. Schwartz; Roger E. Stevenson; Gillian Turner; Michael Partington; Jozef Gecz; Michael R. Stratton; P. Andrew Futreal; F. Lucy Raymond

Book ID: 117854950
Publisher: American Society of Human Genetics
Year: 2006
Tongue: English
Weight: 348 KB
Volume: 79
Category: Article
ISSN: 0002-9297
DOI: 10.1086/510137

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the polyglutamine binding p

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

✍ Kalscheuer, Vera M; Freude, Kristine; Musante, Luciana; Jensen, Lars R; Yntema, 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 460 KB

Mutations in the DLG3 Gene Cause Nonsynd

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

✍ Patrick Tarpey; Josep Parnau; Matthew Blow; Hayley Woffendin; Graham Bignell; Ch 📂 Article 📅 2004 🏛 American Society of Human Genetics 🌐 English ⚖ 903 KB

Mutations in the FTSJ1 Gene Coding for a

Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation

✍ Kristine Freude; Kirsten Hoffmann; Lars-Riff Jensen; Martin B. Delatycki; Vincen 📂 Article 📅 2004 🏛 American Society of Human Genetics 🌐 English ⚖ 364 KB

Mutations in the BRWD3 Gene Cause X-Link

Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly

✍ Michael Field; Patrick S. Tarpey; Raffaella Smith; Sarah Edkins; Sarah O’Meara; 📂 Article 📅 2007 🏛 American Society of Human Genetics 🌐 English ⚖ 424 KB

Novel Truncating Mutations in the Polygl

Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

✍ Lenski, Claus (author);Abidi, Fatima (author);Meindl, Alfons (author);Gibson, Al 📂 Article 📅 2004 🏛 University of Chicago Press 🌐 English ⚖ 181 KB

Novel Truncating Mutations in the Polygl

Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

✍ Lenski, Claus (author);Abidi, Fatima (author);Meindl, Alfons (author);Gibson, Al 📂 Article 📅 2004 🏛 University of Chicago Press 🌐 English ⚖ 181 KB