Identification of two novel mutations and of a novel critical region in the KRIT1 gene

Neurogenetics

Volumn 8, Issue 1, 2007, Pages 29-37

  Guarnieri, Vito ^a   Muscarella, Lucia A ^a   Amoroso, Rosina ^a,b   Quattrone, Alessandro ^a,c   Abate, Massimo E ^a   Coco, Michelina ^a   Catapano, Domenico ^a   D'Angelo, Vincenzo A ^a   Zelante, Leopoldo ^a   D'Agruma, Leonardo ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b Ospedali Riuniti di Livorno   (Italy)

^c UNIVERSITY OF TRENTO   (Italy)

Author keywords

Genetics; Mutation; RTqPCR; SpaGV; Vascular malformations

Indexed keywords

DNA; KREV INTERACTION TRAPPED 1 PROTEIN; PROTEIN;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CEREBROVASCULAR MALFORMATION; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA EXTRACTION; EXON; FAMILY; FEMALE; GENE DELETION; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ITALY; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA EXTRACTION; RNA SPLICING; RNA TRANSLATION; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; BRAIN NEOPLASMS; EXONS; FAMILY; FEMALE; HEMANGIOMA, CAVERNOUS; HUMANS; INTRONS; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS;

EID: 33845668391     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-006-0056-y     Document Type: Article

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