Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis​

Author:

Abiri Maryam,Karamzadeh Razieh,Karimipoor Morteza,Ghadami Shirin,Alaei Mohammad Reza,Bagheri Samira Dabagh,Bagherian Hamideh,Setoodeh Aria,Noori-Daloii Mohammad Reza,Sirous Zeinali

Publisher

Elsevier BV

Subject

Health, Toxicology and Mutagenesis,Genetics,Molecular Biology

Reference33 articles.

1. Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression;Nellis;Mol. Genet. Metab.,2003

2. Disorders of leucine metabolism;Wappner,2002

3. S.V. Chuang, D.T., Maple syrup urine disease (branchedchain ketoaciduria). in: S.W. Scriver, C.R. Beaudet, A.L., Valle D., C.B. (Eds), Kinzler K.W., Vogelstein B. (assoc Eds). The Metabolic and Molecular Basis of Inerited Disease, Mc Graw-Hil, New York, (2001). pp. 1971–2006.

4. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance;Menkes;Pediatrics,1954

5. A defect in branched-chain amino acid metabolism in a patient with congenital lactic acidosis due to dihydrolipoyl dehydrogenase deficiency;Taylor;Pediatr. Res.,1978

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