Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity (Q28609226)

3 February 2017

title

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

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3 February 2017

main subject

mucopolysaccharidosis I

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G. J. Lee-Chen

1

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3 February 2017

S. P. Lin

series ordinal

2

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3 February 2017

Y. F. Tang

series ordinal

3

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3 February 2017

Y. W. Chin

series ordinal

4

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3 February 2017

publication date

1 July 1999

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3 February 2017

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3 February 2017

volume

56

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3 February 2017

issue

1

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3 February 2017

page(s)

66–70

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

3 February 2017

cites work

1 reference

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560109.X

Human alpha-L-iduronidase: cDNA isolation and expression

21 April 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560109.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.1999.560109.X

0 references

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