Two novel HTRA1 mutations in a European CARASIL patient.
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy "Iuliu Hatieganu," Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico "Santa Maria alle Scotte," Siena, Italy.
Silvia
S
Bianchi
Chiara
C
Di Palma
Gian Nicola
GN
Gallus
Ilaria
I
Taglia
Antonella
A
Poggiani
Francesca
F
Rosini
Alessandra
A
Rufa
Dafin Fior
DF
Muresanu
Alfonso
A
Cerase
Maria Teresa
MT
Dotti
Antonio
A
Federico
D000328:Adult; D000505:Alopecia / Q000235:genetics*; D002544:Cerebral Infarction / Q000235:genetics*; D005260:Female; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012383:Romania; D012697:Serine Endopeptidases / Q000235:genetics*; D013122:Spinal Diseases / Q000235:genetics*
D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases