AGRIS - Système international des sciences et technologies agricoles

Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation?

2013

D'Angelo, Rosalia | Scimone, Concetta | Calabrò, Marco | Schettino, Carla | Fratta, Mario | Sidoti, Antonina


Informations bibliographiques
Gene
Volume 519 Pagination 202 - 207 ISSN 0378-1119
Editeur
Elsevier B.V.
D'autres materias
Abnormal development; Restriction fragment length; Mri; Penetrance; Sequence deletion; Mrna decay; Stop codon; Krit1; Headache; Rna splicing; Female; Aei; Middle aged; Real-time rt-pcr; Rt-pcr; Haploinsufficiency; Pcr-rflp; White people; Nmd; Male; Ptb; Cerebral cavernous malformations; Gapdh; Pdcd10; Two-hit model; Phenotype; Cavernous; Hemangioma; Real-time polymerase chain reaction; Mlpa; Adult; Reverse transcriptase polymerase chain reaction; Messenger; Reverse transcriptase polymerase chain reaction
Langue
anglais
Note
2019-12-06
Type
Text; Journal Article

2024-02-28
MODS
Fournisseur de données
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