Document Detail

Maroteaux-Lamy syndrome in a large consanguineous kindred: biochemical and immunological studies.
MedLine Citation:
PMID:  3096137     Owner:  NLM     Status:  MEDLINE    
We describe a large consanguineous German-Acadian ("Cajun") family from a rural area in Louisiana in which 11 persons in two generations had the Maroteaux-Lamy syndrome. The mutant arylsulfatase B enzyme in this family was similar to the mutant enzyme in previously studied families in its cross-reactivity with specific antibodies to the enzyme, but it differed in both its electrophoretic mobility and its residual enzymatic activity. These findings indicate that a different mutational event leading to Maroteaux-Lamy syndrome occurred in this family.
S H Black; M Z Pelias; J B Miller; M G Blitzer; E Shapira
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  25     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1986 Oct 
Date Detail:
Created Date:  1986-12-10     Completed Date:  1986-12-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  273-9     Citation Subset:  IM    
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MeSH Terms
Chondro-4-Sulfatase / genetics,  immunology,  isolation & purification
Genes, Recessive
Mucopolysaccharidoses / genetics*
Mucopolysaccharidosis VI / enzymology,  genetics*,  immunology
Reg. No./Substance:

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