Found: 8
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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 213, doi. 10.1038/90038
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- Publication type:
- Article
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 462, doi. 10.1038/70585
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- Publication type:
- Article
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population‐based study.
- Published in:
- Brain: A Journal of Neurology, 2003, v. 126, n. 9, p. 2016, doi. 10.1093/brain/awg204
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- Publication type:
- Article
Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction.
- Published in:
- Mammalian Genome, 2001, v. 12, n. 1, p. 77, doi. 10.1007/s003350010235
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- Publication type:
- Article
Mutations in TITF-1 are associated with benign hereditary chorea.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 8, p. 971, doi. 10.1093/hmg/11.8.971
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- Publication type:
- Article
Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3075
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- Publication type:
- Article
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.
- Published in:
- 1999
- By:
- Publication type:
- journal article
The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 12, p. 2213
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- Publication type:
- Article