(Q62723487)

English

Identification and characterization of -3c-g acceptor splice site mutation in human α- l-iduronidase associated with mucopolysaccharidosis type IH/S

scientific article published on 01 February 2000

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

T R Wang

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S P Lin

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

G J Lee-Chen

5

1 reference

Europe PubMed Central

PubMed publication ID

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5 November 2019

publication date

1 February 2000

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Europe PubMed Central

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5 November 2019

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

57

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

131-136

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure and sequence of the human alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Murine alpha-L-iduronidase: cDNA isolation and expression.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570207.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2000.570207.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735634%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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