一名印度甲基丙二酸血症cblA型患者的新型突变。
Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type.
作者信息
Girisha Katta Mohan, Shrikiran Aroor, Bidchol Abdul Mueed, Sakamoto Osamu, Gopinath Puthiya Mundyat, Satyamoorthy Kapaettu
机构信息
Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.
出版信息
Indian J Hum Genet. 2012 Sep;18(3):346-8. doi: 10.4103/0971-6866.108025.
Abstract
We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.
摘要
我们报告了一名患有cblA型甲基丙二酸血症的女孩，该女孩存在一种新的纯合突变，并描述了其临床表型及治疗反应。
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