Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

Human genetics

Volumn 122, Issue 5, 2007, Pages 550-

  Limaye, Nisha ^a   Revencu, N ^a   Van Regemorter, N ^a   Garzon, M ^a   Bonduelle, M ^a   Chung, W ^a   Daras, M D ^a   Fahey, M C ^a   Garrett, C ^a   Gillerot, Y ^a   Gillessen Kaesbach, G ^a   Gimenez Arnau A ^a   Guzzetta, F ^a   Battaglia, D ^a   Heimdal, K ^a   Lissens, W ^a   Taub, E ^a   Van Maldergem, L ^a   Van Paesschen, W ^a   Wieczorek, D ^a   Wood, N W ^a   Boon, L ^a   Vikkula, M ^a   more..

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CCM1 PROTEIN, HUMAN; DNA; MICROTUBULE ASSOCIATED PROTEIN; ONCOPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BRAIN HEMANGIOMA; CENTRAL NERVOUS SYSTEM TUMOR; CODON; GENE EXPRESSION REGULATION; GENETICS; HUMAN; NUCLEOTIDE SEQUENCE; INTRON; POINT MUTATION; RNA SPLICING;

BASE SEQUENCE; CENTRAL NERVOUS SYSTEM NEOPLASMS; CODON; DNA; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; MICROTUBULE-ASSOCIATED PROTEINS; MUTAGENESIS, INSERTIONAL; PROTO-ONCOGENE PROTEINS; INTRONS; POINT MUTATION; RNA SPLICE SITES; RNA SPLICING;

EID: 42049111008     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)