Japanese case of hereditary hemorrhagic telangiectasia type 2 with a novel mutation, c.154A>C (p. Thr52Pro), in the ALK1/ACVRL1 gene

Neurology and Clinical Neuroscience

Volumn 2, Issue 4, 2014, Pages 126-128

  Nishimoto, Yoshinori ^a,b   Morisaki, Hiroko ^c   Yamada, Osamu ^c   Ichinose, Yuichi ^a   Suzuki, Norihiro ^b  

^a Department of Radiology   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; MANGANESE;

ACVRL1 GENE; ADULT; ALK1 GENE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ECHOGRAPHY; ENDOTHELIUM CELL; GENE; GENE MUTATION; GLOBUS PALLIDUS; HUMAN; MALE; MIDDLE AGED; NEUROLOGIC EXAMINATION; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; PREVALENCE; RENDU OSLER WEBER DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 85062481499     PISSN: None     EISSN: 20494173     Source Type: Journal    
DOI: 10.1111/ncn3.102     Document Type: Note

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