(Q44483690)

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

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scholarly article

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3 December 2017

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

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Europe PubMed Central

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3 December 2017

genotype-phenotype correlation

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based on heuristic

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Masashi Mizuguchi

21

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Masashi Mizuguchi

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3 December 2017

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Hong-Zhi Gao

1

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3 December 2017

Keiko Kobayashi

2

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Ayako Tabata

3

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Hideaki Tsuge

4

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Mikio Iijima

5

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Tomotsugu Yasuda

6

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H Serap Kalkanoglu

7

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Ali Dursun

8

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Aysegul Tokatli

9

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Turgay Coskun

10

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Friedrich K Trefz

11

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Daniela Skladal

12

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Hanna Mandel

13

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Joerg Seidel

14

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Soichi Kodama

15

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Seiko Shirane

16

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Takafumi Ichida

17

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Shigeru Makino

18

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Makoto Yoshino

19

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Jong-Hon Kang

20

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Bruce A Barshop

22

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Shohei Fuchinoue

23

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Sara Seneca

24

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Susan Zeesman

25

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Ina Knerr

26

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Margarita Rodés

27

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Pornswan Wasant

28

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Ichiro Yoshida

29

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Linda De Meirleir

30

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Md Abdul Jalil

31

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Laila Begum

32

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3 December 2017

Masahisa Horiuchi

33

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Nobuhiko Katunuma

34

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Shiro Nakagawa

35

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Takeyori Saheki

36

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3 December 2017

publication date

1 July 2003

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3 December 2017

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24-34

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3 December 2017

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Sequence for human argininosuccinate synthetase cDNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Molecular definition of bovine argininosuccinate synthetase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

The 1.6 A crystal structure of E. coli argininosuccinate synthetase suggests a conformational change during catalysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Substrate induced conformational changes in argininosuccinate synthetase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Conservation of structure in the human gene encoding argininosuccinate synthetase and the argG genes of the archaebacteria Methanosarcina barkeri MS and Methanococcus vannielii

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Molecular characterization of the murine argininosuccinate synthetase locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Sequences of the genes encoding argininosuccinate synthetase in Escherichia coli and Saccharomyces cerevisiae: comparison with methanogenic archaebacteria and mammals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Mutations and DNA diagnoses of classical citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Neonatal presentation of adult-onset type II citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Phenotype and genotype heterogeneity in Mediterranean citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

21 January 2018

Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

7 January 2021

based on heuristic

inferred from DOI database lookup

Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10230

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10230

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

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