✦ LIBER ✦

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

✍ Scribed by Mignot, Cyril; Héron, Delphine; Bursztyn, Joseph; Momtchilova, Marta; Mayer, Michèle; Whalen, Sandra; Legall, Anne; Billette de Villemeur, Thierry; Burglen, Lydie

Book ID: 125431955
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 552 KB
Volume: 35
Category: Article
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2012.03.010

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel SLC9A6 mutations in two families w

Novel SLC9A6 mutations in two families with Christianson syndrome

✍ A Riess; E Rossier; R Krüger; A Dufke; S Beck-Woedl; V Horber; M Alber; D Gläser 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 679 KB

Novel Mutation in RLBP1 Gene in a Japane

Novel Mutation in RLBP1 Gene in a Japanese Patient With Retinitis Punctata Albescens

✍ Makoto Nakamura; Jian Lin; Yasuki Ito; Yozo Miyake 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 200 KB

A novel mutation of SLC22A12 gene causin

A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome

✍ Ching-Wan Lam; Alice P.S. Kong; Teresa K.C. Tsui; Risa Ozaki; Ho-Ming Chan; Sui- 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 111 KB

Heterogeneous mutations in the SLC3A1 an

Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria

✍ Yuen, Y-P; Lam, C-W; Lai, C-K; Tong, S-F; Li, P-S; Tam, S; Kwan, E Y-W; Chan, S- 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 188 KB

A novel missense and a recurrent mutatio

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome

✍ Muhammad Faiyaz-Ul-Haque; Syed H.E. Zaidi; Nouriyah Al-Sanna; Abdulrahman Alswai 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 921 KB

A Novel XPA Gene Mutation and its Functi

A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A

✍ Tanioka, Miki ;Budiyant, Arief ;Ueda, Takahiro ;Nagano, Tohru ;Ichihashi, Masami 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 215 KB