✦ LIBER ✦

A Mutation in the Gene for the Neurotransmitter Receptor–Clustering Protein Gephyrin Causes a Novel Form of Molybdenum Cofactor Deficiency

✍ Scribed by Jochen Reiss; Sigrid Gross-Hardt; Ernst Christensen; Peter Schmidt; Ralf R. Mendel; Günter Schwarz

Book ID: 117853498
Publisher: American Society of Human Genetics
Year: 2001
Tongue: English
Weight: 376 KB
Volume: 68
Category: Article
ISSN: 0002-9297
DOI: 10.1086/316941

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the gene for the E1β subuni

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

✍ Ruth M. Brown; Rosemary A. Head; Ivan I. Boubriak; James V. Leonard; Neil H. Tho 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 163 KB

Successful plasma therapy for atypical h

Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15

✍ Christoph Licht; Annic Weyersberg; Stefan Heinen; Ludwig Stapenhorst; Jacqueline 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 266 KB

Mutations in the Fukutin-Related Protein

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

✍ Martin Brockington; Derek J. Blake; Paola Prandini; Susan C. Brown; Silvia Torel 📂 Article 📅 2001 🏛 American Society of Human Genetics 🌐 English ⚖ 244 KB