(Q55670718)

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

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title

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

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main subject

mucopolysaccharidosis I

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S Bunge

1

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W J Kleijer

series ordinal

2

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C Steglich

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3

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M Beck

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4

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E Schwinger

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5

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A Gal

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6

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language of work or name

English

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publication date

1995

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published in

Human Mutation

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volume

6

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issue

1

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page(s)

91-4

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cites work

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.

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reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380060119

retrieved

7 January 2021

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

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380060119

retrieved

7 January 2021

based on heuristic

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

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https://api.crossref.org/works/10.1002%2FHUMU.1380060119

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7 January 2021

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

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https://api.crossref.org/works/10.1002%2FHUMU.1380060119

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7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.1380060119

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7 January 2021

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

1 reference

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https://api.crossref.org/works/10.1002%2FHUMU.1380060119

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7 January 2021

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Human alpha-L-iduronidase: cDNA isolation and expression

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https://api.crossref.org/works/10.1002%2FHUMU.1380060119

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7 January 2021

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

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7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.1380060119

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7 January 2021

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380060119

retrieved

7 January 2021

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inferred from DOI database lookup

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

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reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380060119

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7 January 2021

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Identifiers

DOI

10.1002/HUMU.1380060119

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PubMed publication ID

7550242

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(Q55670718)

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

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