A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain

Journal of the Chinese Medical Association

Volumn 76, Issue 6, 2013, Pages 319-324

  Soong, Bing Wen ^a,b   Liao, Yi Chu ^b,c   Tu, Pang Hsien ^d   Tsai, Pei Chien ^b   Lee, I Hui ^a,b   Chung, Chih Ping ^a,b   Lee, Yi Chung ^a,b  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^d INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

Author keywords

CADASIL; Homozygous NOTCH3 mutation; NOTCH3; RCVL; TREX1

Indexed keywords

EXONUCLEASE; GENOMIC DNA; NOTCH3 RECEPTOR; TREX1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CEREBROVASCULAR DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HETEROZYGOTE; HUMAN; MALE; MEDICAL HISTORY; MUTATIONAL ANALYSIS; PHENOTYPE;

ADULT; AGED; BRAIN INFARCTION; EXODEOXYRIBONUCLEASES; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; MUTATION; PHOSPHOPROTEINS; RECEPTORS, NOTCH;

EID: 84878230739     PISSN: 17264901     EISSN: 17287731     Source Type: Journal    
DOI: 10.1016/j.jcma.2013.03.002     Document Type: Article

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