Mutations responsible for 3-phosphoserine phosphatase deficiency
about
A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered l-serine level associated with disruption of PSAT1 gene expressionPhosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathwayNeu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayGenome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic strokeMechanisms of toxicity of triphenyltin chloride (TPTC) determined by a live cell reporter array.Incidental medical information in whole-exome sequencing.Fatal cerebral edema associated with serine deficiency in CSF.Human HAD phosphatases: structure, mechanism, and roles in health and disease.On the phenotypic spectrum of serine biosynthesis defects.De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic featuresNovel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.An update on serine deficiency disorders.Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.
P2860
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P2860
Mutations responsible for 3-phosphoserine phosphatase deficiency
description
2004 nî lūn-bûn
@nan
2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations responsible for 3-phosphoserine phosphatase deficiency
@ast
Mutations responsible for 3-phosphoserine phosphatase deficiency
@en
Mutations responsible for 3-phosphoserine phosphatase deficiency
@en-gb
Mutations responsible for 3-phosphoserine phosphatase deficiency
@nl
type
label
Mutations responsible for 3-phosphoserine phosphatase deficiency
@ast
Mutations responsible for 3-phosphoserine phosphatase deficiency
@en
Mutations responsible for 3-phosphoserine phosphatase deficiency
@en-gb
Mutations responsible for 3-phosphoserine phosphatase deficiency
@nl
prefLabel
Mutations responsible for 3-phosphoserine phosphatase deficiency
@ast
Mutations responsible for 3-phosphoserine phosphatase deficiency
@en
Mutations responsible for 3-phosphoserine phosphatase deficiency
@en-gb
Mutations responsible for 3-phosphoserine phosphatase deficiency
@nl
P2093
P2860
P50
P356
P1476
Mutations responsible for 3-phosphoserine phosphatase deficiency
@en
P2093
Anja Rabbijns
Jaak Jaeken
Yves Peeraer
P2860
P2888
P356
10.1038/SJ.EJHG.5201083
P407
P577
2004-02-01T00:00:00Z
P5875
P6179
1012912756