Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.

作者: Ingrid Slade , Anne Murray , Sandra Hanks , Ajith Kumar , Lisa Walker

DOI: 10.1007/S10689-010-9411-0

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摘要: … PTCH1 or SUFU in the three familial medulloblastoma pedigrees. We identified no PTCH1 mutations and two SUFU … The SUFU mutations were identified in two of the 16 individuals with …

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