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Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
- Published in:
- Nature Genetics, 2001, v. 29, n. 4, p. 383, doi. 10.1038/ng764
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- Article
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM.
- Published in:
- Nature Genetics, 2000, v. 24, n. 1, p. 15, doi. 10.1038/71626
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- Article
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.
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- Nature Genetics, 1999, v. 22, n. 4, p. 379, doi. 10.1038/11956
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- Article
The Fanconi anaemia group G gene FANCG is identical with XRCC9.
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- Nature Genetics, 1998, v. 20, n. 3, p. 281, doi. 10.1038/3093
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- Article
Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 5, p. 1387, doi. 10.1093/brain/aws070
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- Article
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 1036, doi. 10.1002/humu.21535
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- Article