(Q28241982)

2

0 references

M Wehnert

3

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G Seidlitz

4

0 references

F H Herrmann

New distal marker closely linked to the fragile X locus

5

0 references

language of work or name

English

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publication date

1994

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published in

Human Mutation

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volume

4

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issue

2

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page(s)

128-31

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cites work

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Detection of point mutations and a gross deletion in six Hunter Syndrome patients

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Hunter syndrome: gene deletions and rearrangements

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

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/HUMU.1380040206

7 January 2021

A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Reliability of the Tønnesen technique for the identification of Hunter carriers

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Structural gene aberrations in mucopolysaccharidosis II (Hunter)

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021

A BclI RFLP for DXS296 (VK21) near the fragile X.

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380040206

7 January 2021