A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas

Archives of Ophthalmology

Volumn 120, Issue 2, 2002, Pages 217-218

  Laberge Le Couteulx, Sophie ^a   Brézin, Antoine P ^a   Fontaine, Bertrand ^a   Tournier Lasserve, Elisabeth ^a   Labauge, Pierre ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN KRIT1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CAVERNOUS HEMANGIOMA; CHROMOSOME 3Q; CHROMOSOME 7Q; CHROMOSOME MAP; CLINICAL FEATURE; CORRELATION ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE FUNCTION; GENE MUTATION; HERPES SIMPLEX KERATITIS; HUMAN; OPHTHALMOSCOPY; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FAMILY; RETINA ANGIOGRAPHY; RETINA DISEASE;

ADULT; ANKYRIN REPEAT; BRAIN NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; FLUORESCEIN ANGIOGRAPHY; FRAMESHIFT MUTATION; HEMANGIOMA, CAVERNOUS; HUMANS; MAGNETIC RESONANCE IMAGING; MICROTUBULE-ASSOCIATED PROTEINS; PROTO-ONCOGENE PROTEINS; RETINAL NEOPLASMS;

EID: 0036128428     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Truncating mutations in CCMI, encoding KRIT1, cause hereditary cavernous angiomas
2. Nine cases of cavernous hemangioma of the retina
3. Familial cavernous malformations of the central nervous system and retina
4. Familial cavernous hemangioma: An expanding ocular spectrum
5. KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation