TY  - GEN
AU  - Uyama,E
AU  - Tokunaga,M
AU  - Suenaga,A
AU  - Kotorii,S
AU  - Kamimura,K
AU  - Takahashi,K
AU  - Tabira,T
AU  - Uchino,M
TI  - Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL
SN  - 0918-2918
PY  - 2000///1207
KW  - Arginine
KW  - genetics
KW  - Brain
KW  - pathology
KW  - Cystine
KW  - DNA Mutational Analysis
KW  - DNA Primers
KW  - chemistry
KW  - Dementia, Multi-Infarct
KW  - diagnosis
KW  - Female
KW  - Humans
KW  - Japan
KW  - epidemiology
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Pedigree
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Single-Stranded Conformational
KW  - Proto-Oncogene Proteins
KW  - Receptor, Notch3
KW  - Receptors, Cell Surface
KW  - Receptors, Notch
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.2169/internalmedicine.39.732
ER  -