Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
about
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsHigh prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genesGenome Wide Association Analysis Reveals New Production Trait Genes in a Male Duroc PopulationMolecular characterization of CPS1 deletions by array CGHNovel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.Role of Cys-1327 and Cys-1337 in redox sensitivity and allosteric monitoring in human carbamoyl phosphate synthetase.Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis.Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
P2860
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P2860
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
description
1998 nî lūn-bûn
@nan
1998 թուականին հրատարակուած գիտական յօդուած
@hyw
1998 թվականին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@ast
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@en
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@en-gb
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@nl
type
label
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@ast
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@en
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@en-gb
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@nl
prefLabel
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@ast
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@en
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@en-gb
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@nl
P2093
P1433
P1476
Prenatal diagnosis of carbamoy ...... of a missense mutation in CPS1
@en
P2093
P304
P356
10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E
P407
P577
1998-01-01T00:00:00Z