SCOPUS 정보 검색 플랫폼

Ophthalmic Genetics

Volumn 27, Issue 4, 2006, Pages 157-159

A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma

(5) Kitzmann, Anna S a Pulido, Jose S a Ferber, Matthew J a Highsmith, W Edward a Babovic Vuksanovic, Dusica a

a MAYO CLINIC (United States)

Author keywords

CCM1 KRIT1 gene; Cerebral cavernous hemangioma; Retinal cavernous hemangioma

Indexed keywords

BINDING PROTEIN; CYTOSINE; GUANINE; PROTEIN CCM1;

ANAMNESIS; ARTICLE; BRAIN HEMANGIOMA; CASE REPORT; CEREBRAL CAVERNOUS HEMANGIOMA; CLINICAL FEATURE; CORRELATION ANALYSIS; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HEMANGIOMA; HUMAN; INTRON; PRIORITY JOURNAL; PROTEIN PROCESSING; RETINA DISEASE; RETINAL CAVERNOUS HEMANGIOMA; RNA SPLICING; SCHOOL CHILD;

ANKYRIN REPEAT; BRAIN NEOPLASMS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HEMANGIOMA, CAVERNOUS; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; MAGNETIC RESONANCE IMAGING; MICROTUBULE-ASSOCIATED PROTEINS; POINT MUTATION; PROTO-ONCOGENE PROTEINS; RETINAL NEOPLASMS; RNA SPLICE SITES;

EID: 33845475887 PISSN: 13816810 EISSN: 17445094 Source Type: Journal
DOI: 10.1080/13816810600977168 Document Type: Article

Times cited : (4)

References (6)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.