Maroteaux-Lamy syndrome in a large consanguineous kindred: biochemical and immunological studies.
Am J Med Genet
; 25(2): 273-9, 1986 Oct.
Article
en En
| MEDLINE
| ID: mdl-3096137
ABSTRACT
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.
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Banco de datos:
MEDLINE
Asunto principal:
Mucopolisacaridosis
/
Mucopolisacaridosis VI
Límite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Año:
1986
Tipo del documento:
Article