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Two variants in theKITgene as candidate causative mutations for a dominant white and a white spotting phenotype in the donkey

Animal Genetics, 2015
White spotting phenotypes have been intensively studied in horses, and although similar phenotypes occur in the donkey, little is known about the molecular genetics underlying these patterns in donkeys. White spotting in donkeys can range from only a few white areas to almost complete depigmentation and is characterised by a loss of pigmentation ...
B. Haase, S. Rieder, T. Leeb
openaire +3 more sources

Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation

Neurology, 2010
The association between protein S deficiency (PSD) and ischemic stroke is controversial and warrants further investigation.We conducted a genotype and MRI correlation study in a Chinese family in which hereditary PSD cosegregated with premature ischemic strokes.
Lam, CW +10 more
openaire +5 more sources

Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation

Neurology, 2006
The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine.
FEDERICO, ANTONIO +8 more
openaire +4 more sources

White matter hyperintensities characterize monogenic frontotemporal dementia with granulin mutations

Neurobiology of Aging, 2016
No study but one has suggested the presence of white matter hyperintensities (WMHs) in frontotemporal dementia (FTD), limited to 4 cases carrying pathogenic Granulin (GRN) gene mutations. We investigated the presence of WMHs in a cohort of 14 FTD patients with pathogenic GRN mutations (GRN+), 28 patients without GRN mutations (GRN-) and 18 healthy ...
Paternicò, D +11 more
openaire +4 more sources

A RED-TO-WHITE MUTATION IN MAIZE [PDF]