Found: 10
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Physiological and pathological roles of LRRK2 in the nuclear envelope integrity.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3982, doi. 10.1093/hmg/ddz245
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- Article
The PINK1, synphilin-1 and SIAH-1 complex constitutes a novel mitophagy pathway.
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- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3476, doi. 10.1093/hmg/ddw189
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- Article
AF-6 is a positive modulator of the PINK1/parkin pathway and is deficient in Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 10, p. 2083, doi. 10.1093/hmg/ddt058
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- Article
A novel mutation in the chloride channel gene, CLCNKB , as a cause of Gitelman and Bartter syndromes.
- Published in:
- Kidney International, 2003, v. 63, n. 1, p. 24, doi. 10.1046/j.1523-1755.2003.00730.x
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- Article
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 337, doi. 10.1038/ng746
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- Article
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
- Published in:
- Nature Genetics, 2001, v. 29, n. 2, p. 134, doi. 10.1038/ng716
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- Article
Reply.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 115, n. 4, p. 762, doi. 10.1046/j.1523-1747.2000.00124-2.x
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- Article
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
- Published in:
- Human Mutation, 2000, v. 16, n. 1, p. 37, doi. 10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9
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- Publication type:
- Article
Atrichia with Papular Lesions Resulting from a Nonsense Mutation Within the Human Hairless Gene.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 113, n. 4, p. 687, doi. 10.1046/j.1523-1747.1999.00723.x
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- Article
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.
- Published in:
- Nature Genetics, 1999, v. 22, n. 3, p. 300, doi. 10.1038/10372
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- Publication type:
- Article