(Q28303108)

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The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome)

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scholarly article

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The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome) (English)

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1 reference

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inferred from title

7

object named as

J J Hopwood

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author name string

J E Wraith

1

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A Cooper

2

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M Thornley

3

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P J Wilson

4

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P V Nelson

5

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C P Morris

6

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language of work or name

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publication date

June 1991

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87

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2

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205-6

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis: prenatal diagnosis and carrier detection by DNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

α-l-Iduronidase, β-d-glucuronidase, and 2-sulfo-l-iduronate 2-sulfutase: preparation and characterization of radioactive substrates from heparin

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An assay for iduronate sulfatase (Hunter corrective factor)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping of new RFLPs at Xq27–q28

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1906048

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00204183

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