(Q46910576)

English

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria

scientific article published in January 2005

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scholarly article

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria (English)

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

author name string

M Al-Sayed

1

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

S Alahmed

2

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

O Alsmadi

3

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

H Khalil

4

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

M S Rashed

5

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

F Imtiaz

6

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

B F Meyer

7

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

publication date

1 January 2005

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

28

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

6

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

877-883

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

https://scigraph.springernature.com/pub.10.1007/s10545-005-0081-2

0 references

cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and sequence analysis of cDNA for human argininosuccinate lyase

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive human genome amplification using multiple displacement amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Application of electrospray tandem mass spectrometry to neonatal screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-005-0081-2

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16435180

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