Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene. (Q54797177)

3 June 2018

title

Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene. (English)

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3 June 2018

author name string

Peining Li

series ordinal

1

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3 June 2018

Tim Wood

series ordinal

2

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3 June 2018

Jerry N Thompson

series ordinal

3

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3 June 2018

language of work or name

English

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publication date

1 November 2002

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3 June 2018

published in

Genetics in Medicine

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3 June 2018

volume

4

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3 June 2018

issue

6

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3 June 2018

page(s)

420-426

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3 June 2018

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

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1 reference

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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

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21 January 2018

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

21 January 2018

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Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

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Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms

21 January 2018

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

21 January 2018

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Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online

21 January 2018

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Unique frequency of known mutations in Brazilian MPS I patients

21 January 2018

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

21 January 2018

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10.1097/00125817-200211000-00004

21 January 2018

Identifiers

DOI

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3 June 2018

Dimensions Publication ID

1034069949

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3 June 2018