Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene
Article Abstract:
Studies of Finnish subjects show that the autosomal recessive disorder congenital lactase deficiency is linked to a single major mutation. Haplotype analysis and genealogical research reveal the locus of the disease to be near to but separate from the gene lactase-phlorizin hydrolase, which has been ruled out as a causative factor.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram Syndrome 2
Article Abstract:
A study done to see whether homozygous mutation in a novel zinc-finger protein, ERIS is responsible for Wolfram Syndrome 2 (WFS2) was carried out. Results showed a mutation causative for WFS2 in a novel, highly conserved zinc-finger gene, ZCD2 is located within the critical region.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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