Clinical and biochemical features associated with BCS1L mutation-Reference-Cited by-同舟云学术

Clinical and biochemical features associated with BCS1L mutation

Published:2012-09-19 Issue:5 Volume:36 Page:813-820
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Al-Owain Mohammed,Colak Dilek,Albakheet Albandary,Al-Younes Banan,Al-Humaidi Zainab,Al-Sayed Moeen,Al-Hindi Hindi,Al-Sugair Abdulaziz,Al-Muhaideb Ahmed,Rahbeeni Zuhair,Al-Sehli Abdullah,Al-Fadhli Fatima,Ozand Pinar T.,Taylor Robert W.,Kaya Namik

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-012-9536-4.pdf

Reference21 articles.

1. Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249

2. Andreu AL, Bruno C, Dunne TC et al (1999a) A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann Neurol 45(1):127–130

3. Andreu AL, Hanna MG, Reichmann H et al (1999b) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 341(14):1037–1044

4. Calvo SE, Mootha VK (2010) The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet 11:25–44

5. de Lonlay P, Valnot I, Barrientos A et al (2001) A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 29(1):57–60

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