Identification of a novel homozygous mutation of the BCKDHB gene in an Iranian patient with maple syrup disease using next-generation sequencing

Author:

Lashkarian Mahboobeh Faramin,Salmani Hamzeh

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference36 articles.

1. In silico analysis of novel mutations in maple syrup urine disease patients from Iran;Abiri;Metab. Brain Dis.,2017

2. Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population;Ali;Mol. Gen. Metab. Rep.,2018

3. Prediction and interpretation of deleterious coding variants in terms of protein structural stability;Ancien;Sci. Rep.,2018

4. Functional annotations improve the predictive score of human disease-related mutations in proteins;Calabrese;Hum. Mutat.,2009

5. Molecular basis of various forms of maple syrup urine disease in Chilean patients;Campanholi;Mol. Gen. Genomic Med.,2021

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