| Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population. | |
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MedLine Citation:
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PMID: 16466959 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The Gypsies are a trans-national founder population of Asian descent, whose genetic heritage is still incompletely characterized. Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. The R59H carrier rate is approximately 2% in the general Gypsy population and approximately 10% in the Rudari sub-isolate. Haplotype analysis suggests that the Gypsy diaspora may have contributed to the spread of this mutation to South America. |
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Authors:
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Ivanka Sinigerska; David Chandler; Vijesh Vaghjiani; Irfet Hassanova; Rebecca Gooding; Amelia Morrone; Ivo Kremensky; Luba Kalaydjieva |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2006-02-08 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 88 ISSN: 1096-7192 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2006 May |
Date Detail:
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Created Date: 2006-04-24 Completed Date: 2006-06-30 Revised Date: 2007-08-13 |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 93-5 Citation Subset: IM |
Affiliation:
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Laboratory of Molecular Pathology, Medical University, Sofia, Bulgaria. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Founder Effect* Gangliosidosis, GM1 / genetics* Gypsies / genetics* Humans Infant Point Mutation beta-Galactosidase / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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EC 3.2.1.23/GLB1 protein, human; EC 3.2.1.23/beta-Galactosidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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