Document Detail


Maroteaux-Lamy syndrome in a large consanguineous kindred: biochemical and immunological studies.
MedLine Citation:
PMID:  3096137     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
S H Black; M Z Pelias; J B Miller; M G Blitzer; E Shapira
Related Documents :
18636597 - Metabolic and physiological studies of corynebacterium glutamicum mutants.
17880007 - Comparative proteomes of corynebacterium glutamicum grown on aromatic compounds reveale...
240817 - Mutants of escherichia coli defective in membrane phospholipid synthesis. phenotypic su...
24391357 - Cloning, expression of b-1,3-1,4 glucanase from bacillus subtilis su40 and the effect o...
1665957 - Assay of 1l-myo-inositol-1-phosphatase using a fluorometric method.
12392527 - Kytococcus sedentarius, the organism associated with pitted keratolysis, produces two k...
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child
Chondro-4-Sulfatase / genetics,  immunology,  isolation & purification
Consanguinity
Female
Genes, Recessive
Humans
Immunochemistry
Male
Mucopolysaccharidoses / genetics*
Mucopolysaccharidosis VI / enzymology,  genetics*,  immunology
Mutation
Chemical
Reg. No./Substance:
EC 3.1.6.9/Chondro-4-Sulfatase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Interstitial 7q deletion [46,XY,del (7) (pter----cen::q112----qter)] in a retarded quadriplegic boy ...
Next Document:  Dermatoglyphics and creases in patients with neurofibromatosis von Recklinghausen.