Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations
Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations
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Publisher
Basel, Switzerland: S. Karger AG
Journal title
Language
English
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Publisher
Basel, Switzerland: S. Karger AG
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Scope and Contents
Contents
Biotinidase deficiency is an autosomal recessive defect in the recycling of biotin that can lead to a variety of neurologic and cutaneous symptoms. The disease can be prevented or effectively treated with exogenous biotin. The biotinidase locus (BTD) has been maped to 3p25 by in situ hybridization. The gene has been cloned, the coding region sequen...
Alternative Titles
Full title
Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations
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TN_cdi_crossref_primary_10_1159_000022897
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1159_000022897
Other Identifiers
ISSN
0001-5652
E-ISSN
1423-0062
DOI
10.1159/000022897
