Article
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
Human heredity - 1 Jan 2000
Blanton S H, Pandya A, Landa B L, Javaheri R, Xia X, Nance W E, Pomponio R J, Norrgard K J, Swango K L, Demirkol M, Gülden H, Coskun T, Tokatli A, Ozalp I, Wolf B
Abstract excerpt
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 sequenced, the genomic organization determined, and a spectrum of...
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