Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia
about
Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondriaTwo hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.Contrasting features of urea cycle disorders in human patients and knockout mouse models.Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
P2860
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia
description
1995 nî lūn-bûn
@nan
1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Nature and frequency of mutati ...... cause classical citrullinemia
@ast
Nature and frequency of mutati ...... cause classical citrullinemia
@en
Nature and frequency of mutati ...... cause classical citrullinemia
@nl
type
label
Nature and frequency of mutati ...... cause classical citrullinemia
@ast
Nature and frequency of mutati ...... cause classical citrullinemia
@en
Nature and frequency of mutati ...... cause classical citrullinemia
@nl
prefLabel
Nature and frequency of mutati ...... cause classical citrullinemia
@ast
Nature and frequency of mutati ...... cause classical citrullinemia
@en
Nature and frequency of mutati ...... cause classical citrullinemia
@nl
P2093
P356
P1433
P1476
Nature and frequency of mutati ...... cause classical citrullinemia
@en
P2093
H Kakinoki
H Terazono
K Kobayashi
T Fukushige
P2888
P304
P356
10.1007/BF00191806
P407
P577
1995-10-01T00:00:00Z
P6179
1000768446