(Q71720944)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

author name string

Tieu PT

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Bach G

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Matynia A

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Hwang M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Neufeld EF

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

publication date

1 January 1995

1 reference

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20 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

6

1 reference

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20 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

55-59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

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.

20 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060111

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380060111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550232%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference