Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene (Q34657640)

3 August 2017

1 reference

title

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene (English)

1 reference

3 August 2017

Katharina Engel

1

1 reference

PubMed ID

19006241

3 August 2017

Wolfgang Höhne

series ordinal

2

1 reference

PubMed ID

19006241

3 August 2017

Johannes Häberle

series ordinal

3

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3 August 2017

1 March 2009

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3 August 2017

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3 August 2017

30

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3 August 2017

300-307

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3 August 2017

3

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A pediatric patient with classical citrullinemia who underwent living-related partial liver transplantation

3 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Sequence for human argininosuccinate synthetase cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Genetic approach to prenatal diagnosis in urea cycle defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Structure of human argininosuccinate synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Long-term survival of patients with argininosuccinate synthetase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Genomic DNA-mediated gene transfer for argininosuccinate synthetase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Molecular characterization of the murine argininosuccinate synthetase locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

New chromosomal mapping assignments for argininosuccinate synthetase pseudogene 1, interferon-beta 3 gene, and the diazepam binding inhibitor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Dispersion of argininosuccinate synthetase-like human genes to multiple autosomes and the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

Molecular Structure of the Human Argininosuccinate Synthetase Gene: Occurrence of Alternative mRNA Splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

7 January 2021

Mutations and DNA diagnoses of classical citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

7 January 2021

Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

7 January 2021

First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

7 January 2021

Neonatal screening for citrullinaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

7 January 2021

Phenotype and genotype heterogeneity in Mediterranean citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20847

7 January 2021

Identifiers

DOI

10.1002/HUMU.20847

1 reference

3 August 2017

1 reference

PubMed ID

19006241