Found: 3
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Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.
- Published in:
- Nature Genetics, 1999, v. 23, n. 3, p. 271, doi. 10.1038/15452
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- Publication type:
- Article
Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 447, doi. 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1
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- Publication type:
- Article
Rapid genetic testing for Gaucher disease by reverse hybridization.
- Published in:
- Annals of Clinical Biochemistry, 2003, v. 40, n. 4, p. 419, doi. 10.1258/000456303766477093
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- Publication type:
- Article