✦ LIBER ✦

A novel mutation in theLRP5gene is associated with osteoporosis-pseudoglioma syndrome

✍ Scribed by E. R. Barros; M. R. Dias da Silva; I. S. Kunii; O. M. Hauache; M. Lazaretti-Castro

Publisher: Springer-Verlag
Year: 2007
Tongue: English
Weight: 57 KB
Volume: 18
Category: Article
ISSN: 0937-941X
DOI: 10.1007/s00198-007-0360-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A mutation in the signal sequence of LRP

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

✍ Boi-Dinh Chung; Hülya Kayserili; Minrong Ai; Jan Freudenberg; Abdullah Üzümcü; O 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 375 KB 👁 2 views

We extend the spectrum of phenotypes caused by mutations in the Wnt/Norrin coreceptor low-density lipoprotein receptor-related protein 5 (LRP5) by identifying two novel types of mutation in related individuals whose presenting features were profound muscle hypotonia, mild mental retardation, blindne

Severe myoclonus-dystonia syndrome assoc

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

✍ Lucie Maréchal; Grégory Raux; Cécile Dumanchin; Guillaume Lefebvre; Emmanuelle D 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB

Various types of LRP5 mutations in four

Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: Identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray

✍ Satoshi Narumi; Chikahiko Numakura; Takashi Shiihara; Chizuru Seiwa; Yasuyuki No 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 280 KB

A novel long-QT 5 gene mutation in the C

A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype

✍ Eric Schulze-Bahr; Martin Schwarz; Susanne Hoffmann; Horst Wedekind; Harald Funk 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 107 KB

A novel hypomorphicMECP2point mutation i

A novel hypomorphicMECP2point mutation is associated with a neuropsychiatric phenotype

✍ Abidemi A. Adegbola; Michael L. Gonzales; Andrew Chess; Janine M. LaSalle; Geral 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 366 KB

A novel mutation, Arg71Thr, in the δ-sar

A novel mutation, Arg71Thr, in the δ-sarcoglycan gene is associated with dilated cardiomyopathy

✍ Satu Kärkkäinen; Raija Miettinen; Petri Tuomainen; Päivi Kärkkäinen; Tiina Heliö 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 219 KB