ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

Item
http://www.wikidata.org/entity/Q41934023
Inborn errors of pyrimidine metabolism: clinical update and therapyMultifunctional glial support by Semper cells in the Drosophila retinaClinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findingsA Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and MicrocephalyGenotypes Affecting the Pharmacokinetics of Anticancer Drugs.Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.Identification of a novel synonymous mutation in the human β -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing.Celiac disease biomarkers identified by transcriptome analysis of small intestinal biopsies
P2860

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

Item
http://www.wikidata.org/entity/Q41934023
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
ß-ureidopropionase deficiency: ...... l consequences in 16 patients.
@en
type
label
ß-ureidopropionase deficiency: ...... l consequences in 16 patients.
@en
prefLabel
ß-ureidopropionase deficiency: ...... l consequences in 16 patients.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
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P1433
P1476
ß-ureidopropionase deficiency: ...... al consequences in 16 patients
@en
P2093
P304
P31
P356
10.1016/J.BBADIS.2012.04.001
P433
P478
P50
P577
P5875
P698
P921