Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population
Abstract Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 females and 4 males) with MSUD from 8 unrelated Chinese...
Saved in:
Main Authors: | , , , , , , |
---|---|
Format: | article |
Language: | EN |
Published: |
Nature Portfolio
2021
|
Subjects: | |
Online Access: | https://doaj.org/article/9cc517774c0942b0974957e6b31313f0 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|