Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database-Reference-Cited by-同舟云学术

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Published:2010-08-18 Issue:1 Volume:19 Page:56-63
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Betsalel Ofir T,Rosenberg Efraim H,Almeida Ligia S,Kleefstra Tjitske,Schwartz Charles E,Valayannopoulos Vassili,Abdul-Rahman Omar,Poplawski Nicola,Vilarinho Laura,Wolf Philipp,den Dunnen Johan T,Jakobs Cornelis,Salomons Gajja S

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010134.pdf

Reference21 articles.

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2. Rosenberg EH, Almeida LS, Kleefstra T et al: High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 2004; 75: 97–105.

3. Betsalel OT, van de Kamp JM, Martínez-Muñoz C et al: Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Neurogenetics 2008; 9: 183–190.

4. Clark AJ, Rosenberg EH, Almeida LS et al: X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet 2006; 119: 604–610.

5. Salomons GS, Bok LA, Struys EA et al: An intriguing ‘silent’ mutation and a founder effect in antiquitin (ALDH7A1). Ann Neurol 2007; 62: 414–418.

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