Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
about
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.Application of droplet digital PCR in the analysis of genome integration and organization of the transgene in BAC transgenic mice.Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
P2860
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Two homozygous mutations in th ...... of maple syrup urine disease.
@en
type
label
Two homozygous mutations in th ...... of maple syrup urine disease.
@en
prefLabel
Two homozygous mutations in th ...... of maple syrup urine disease.
@en
P2093
P2860
P1476
Two homozygous mutations in th ...... of maple syrup urine disease.
@en
P2093
Huiying Sheng
Yongxian Shao
P2860
P2888
P304
P356
10.1007/S11011-017-9959-6
P577
2017-02-15T00:00:00Z
P6179
1083826251