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

Molecular Genetics and Metabolism

Volumn 65, Issue 2, 1998, Pages 174-180

  Voskoboeva, Elena Y ^a,b   Krasnopolskaya, Xenia D ^a   Mirenburg, T V ^a   Weber, Birgit ^b   Hopwood, John J ^b  

^a RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Iduronidase deficiency; Lysosomal storage disorder; Mucopolysaccharidosis type I; Mutation analysis

Indexed keywords

DNA; LEVO IDURONIDASE;

ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; DNA POLYMORPHISM; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HURLER SYNDROME; MUTATION; POPULATION RESEARCH; PRIORITY JOURNAL; SCHEIE SYNDROME; USSR;

EID: 0032192373     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2745     Document Type: Article

References (31)

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