Analysis of the lysosomal storage disease Chediak-Higashi syndrome.
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; 1(11): 816-22, 2000 Nov.
Article
em En
| MEDLINE
| ID: mdl-11208072
ABSTRACT
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of human, mouse (beige) and other mammalian species. The same genetic defect was found to result in the disease in all species identified, permitting a positional cloning approach using the mouse model beige to identify the responsible gene. The CHS gene was cloned and mutations identified in affected species. This review discusses the clinical features of CHS contrasting features seen in similar syndromes. The possible functions of the protein encoded by the CHS/beige gene are discussed, along with the alterations in cellular physiology seen in mutant cells.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Chediak-Higashi
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Animals
/
Humans
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article