Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue

Internal Medicine

Volumn 47, Issue 23, 2008, Pages 2067-2072

  Mizuno, Toshiki ^a   Muranishi, Manabu ^a   Torugun, Torusunjian ^a   Tango, Hiromi ^a   Nagakane, Yoshinari ^a   Kudeken, Tukasa ^b   Kawase, Yuji ^b   Kawabe, Kiyokazu ^b   Oshima, Fumiko ^c   Yaoi, Takeshi ^a   Itoh, Kyoko ^a   Fushiki, Shinji ^a   Nakagawa, Masanori ^a  

^a KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^b TOHO UNIVERSITY OMORI MEDICAL CENTER   (Japan)

^c KYOTO FIRST RED CROSS HOSPITAL   (Japan)

Author keywords

CADASIL; Cysteine; EGF like repeat; GOM; Notch3; White matter lesion

Indexed keywords

CYSTEINE; EPIDERMAL GROWTH FACTOR; NOTCH3 RECEPTOR;

ADULT; AKINETIC MUTISM; ARTICLE; BASAL GANGLION; BRAIN HEMORRHAGE; BRAIN INFARCTION; CADASIL; CASE REPORT; CONVULSION; DEMENTIA; DEPRESSION; DIZZINESS; FAMILY; FEMALE; GENE MUTATION; HEAD INJURY; HEADACHE; HUMAN; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PEDIGREE; PSEUDOBULBAR PALSY; QUADRIPLEGIA; STROKE; THALAMUS; WHITE MATTER;

ASIAN CONTINENTAL ANCESTRY GROUP; CADASIL; CYSTEINE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RECEPTORS, NOTCH;

EID: 61749099221     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.47.1391     Document Type: Article

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