Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
about
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease.Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
P2860
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Whole exome sequencing reveals ...... ponsive basal ganglia disease.
@en
type
label
Whole exome sequencing reveals ...... ponsive basal ganglia disease.
@en
prefLabel
Whole exome sequencing reveals ...... ponsive basal ganglia disease.
@en
P2093
P2860
P1476
Whole exome sequencing reveals ...... ponsive basal ganglia disease.
@en
P2093
E J Cambray-Forker
J E Abdenur
L J Sremba
N M Elbalalesy
P2860
P304
P356
10.1016/J.YMGMR.2014.07.008
P577
2014-08-28T00:00:00Z