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

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Bibliographic Details
Published in:Human genetics 2007-12, Vol.122 (5), p.550
Main Authors: Limaye, Nisha, Revencu, N, Van Regemorter, N, Garzon, M, Bonduelle, M, Chung, W, Daras, M D, Fahey, M C, Garrett, C, Gillerot, Y, Gillessen-Kaesbach, G, Giménez-Arnau, A, Guzzetta, F, Battaglia, D, Heimdal, K, Lissens, W, Taub, E, Van Maldergem, L, Van Paesschen, W, Wieczorek, D, Wood, N W, Boon, L, Vikkula, M
Format: Article
Language:English
Subjects:
Base Sequence
Central Nervous System Neoplasms - genetics
Codon - genetics
DNA - genetics
Hemangioma, Cavernous, Central Nervous System - genetics
Humans
KRIT1 Protein
Microtubule-Associated Proteins - genetics
Mutagenesis, Insertional
Proto-Oncogene Proteins - genetics
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ISSN:1432-1203