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Article

Identification of PATCHED mutations in medulloblastomas by direct sequencing.

Human mutation - 1 Jul 2000

Dong J, Gailani M R, Pomeroy S L, Reardon D, Bale A E

Abstract excerpt

Medulloblastoma is the most common malignant embryonic tumors of the central nervous system. The nevoid basal cell carcinoma syndrome (NBCCS), which is caused by mutations of PTCH gene on chromosome 9q22, accounts for about 2% of all medulloblastomas. Previous studies of PTCH in sporadic medulloblastomas using single strand conformational polymorphism (SSCP) detected mutations in about 10% of the tumors. In this...

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PMID: 10874314
DOI: 10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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