Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis
Article Abstract:
The underlying molecular basis for the alpha-mannosidosis disorder is attributable to heterogeneous nonsense or missense mutations of the lysosomal alpha-mannosidase (MANB) gene. Research shows that these mutations significantly reduce alpha-mannosidase enzymatic activity, resulting in the disorder. Alpha-mannosidosis is an autosomal recessive lysosomal-storage disorder which results in mental retardation, hearing loss and/or infant fatality.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity
Article Abstract:
Studies of Italian trichothiodystrophy patients indicate that the severity of symptoms is regulated by gene dosage in the mutation rather than mutation site. Although the mutation site is linked with repair deficiency, the hair abnormalities such as cellular photosensitivity correspond to unique mutations in the xeroderma pigmentosum gene, resulting in disease alleles.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3
Article Abstract:
The gene for congenital dyserythropoietic anemia type 1 is located between D15S779 and D15S778 on chromosome 15q15.1-15.3. Eight carrier haplotypes have been identified in a cluster of 25 patients from four large consanguineous Israeli Bedouin families, with indications of a single founder haplotype. The mutation probably occurred between 400-500 years ago.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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