Article
Clinical and biochemical features associated with BCS1L mutation.
Journal of inherited metabolic disease - 1 Sept 2013
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
Abstract excerpt
Our study describes a novel phenotype in a series of nine Saudi patients with lactic acidosis, from four consanguineous families three of which are related. Detailed genetic studies including linkage, homozygosity mapping and targeted sequencing identified a causative mutation in the BCS1L gene. All affected members of the families have an identical mutation in this gene, mutations of which are recognized causes...
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