Article
Further evidence for allelic heterogeneity in Hartnup disorder.
Human mutation - 1 Oct 2008
Azmanov Dimitar N, Kowalczuk Sonja, Rodgers Helen, Auray-Blais Christiane, Giguère Robert, Rasko John E J, Bröer Stefan, Cavanaugh Juleen A
Abstract excerpt
Hartnup disorder is an autosomal recessive impairment of amino acid transport in kidney and intestine. Mutations in SLC6A19 have been shown to cosegregate with the disease in the predicted recessive manner; however, in two previous studies (Seow et al., Nat Genet 2004;36:1003-1007; Kleta et al., Nat Genet 2004;36:999-1002), not all causative alleles were identified in all affected individuals, raising the...
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