Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
about
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
P2860
Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
description
2015 nî lūn-bûn
@nan
2015 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Two novel compound heterozygou ...... of maple syrup urine disease.
@ast
Two novel compound heterozygou ...... of maple syrup urine disease.
@en
type
label
Two novel compound heterozygou ...... of maple syrup urine disease.
@ast
Two novel compound heterozygou ...... of maple syrup urine disease.
@en
prefLabel
Two novel compound heterozygou ...... of maple syrup urine disease.
@ast
Two novel compound heterozygou ...... of maple syrup urine disease.
@en
P2093
P2860
P1476
Two novel compound heterozygou ...... of maple syrup urine disease.
@en
P2093
P2860
P2888
P304
P356
10.1007/S11011-015-9711-Z
P577
2015-08-04T00:00:00Z
P6179
1003533939