(Q72033680)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

main subject

mucopolysaccharidosis I

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Charles Phillip Morris

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Hamish S. Scott

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

author name string

Nelson PV

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Warrington CL

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Hopwood JJ

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

publication date

1 January 1994

1 reference

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23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

275-282

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

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

23 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

7 January 2021

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

7 January 2021

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

7 January 2021

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

7 January 2021

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/10.1002%2FHUMU.1380030316

7 January 2021

Isolation of RNA using guanidinium salts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

7 January 2021

Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

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.1380030316

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.1380030316

7 January 2021

Splicing of messenger RNA precursors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

7 January 2021

The clinical spectrum of alpha-L-iduronidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

7 January 2021

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

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.1380030316

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.1380030316

7 January 2021

Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

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.1380030316

7 January 2021

Scheie and Hurler syndromes: apparent identity of the biochemical defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030316

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030316

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019563%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference