Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations-Reference-Cited by-同舟云学术

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

Published:1994 Issue:3 Volume:3 Page:275-282
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Clarke Lorne A.,Nelson Paul V.,Warrington Cara L.,Morris C. Phillip,Hopwood John J.,Scott Hamish S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

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

2. (1989) Enzymes that degrade heparin and heparan sulphate. In (eds): Heparin: Chemical and Biological Properties, Clinical Applications. London: Arnold, pp 190-229.

3. Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

4. Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene

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