Found: 7
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New intragenic rearrangements in non-Finnish mulibrey nanism.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2782, doi. 10.1002/ajmg.a.38381
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- Publication type:
- Article
Intragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases.
- Published in:
- British Journal of Haematology, 2024, v. 205, n. 4, p. 1636, doi. 10.1111/bjh.19692
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- Publication type:
- Article
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 17, p. 4479, doi. 10.1093/hmg/ddu160
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- Publication type:
- Article
Transient aplastic crisis as presentation of a previously unknown G6PD deficiency with iron overload.
- Published in:
- 2011
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- Publication type:
- Case Study
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 206, doi. 10.1002/humu.9517
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- Publication type:
- Article
Hyperhomocysteinaemia, folate and vitamin B12 in unsupplemented haemodialysis patients: effect of oral therapy with folic acid and vitamin B12.
- Published in:
- Nephrology Dialysis Transplantation, 2002, v. 17, n. 3, p. 455, doi. 10.1093/ndt/17.3.455
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- Publication type:
- Article
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2241, doi. 10.1093/hmg/ddg225
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- Publication type:
- Article