(Q74006249)

English

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

scientific article published on 01 June 2000

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896281%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896281%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

M Linnebank

1

1 reference

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8 November 2019

A Homberger

2

1 reference

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8 November 2019

B Rapp

3

1 reference

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8 November 2019

C Winter

4

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8 November 2019

T Marquardt

5

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8 November 2019

E Harms

6

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8 November 2019

H G Koch

7

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8 November 2019

publication date

1 June 2000

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8 November 2019

Journal of Inherited Metabolic Disease

1 reference

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8 November 2019

23

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8 November 2019

4

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8 November 2019

308-312

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8 November 2019

https://scigraph.springernature.com/pub.10.1023/a:1005690005439

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10896281

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10896281

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/10896281

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human argininosuccinate lyase: a structural basis for intragenic complementation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10896281

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10896281

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/10896281

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10896281

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene sharing by delta-crystallin and argininosuccinate lyase

1 reference

https://pubmed.ncbi.nlm.nih.gov/10896281

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/10896281

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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