A retrospective family study of childhood medulloblastoma (Am J Med Genet 134A(4): 399–403)
Year: 2005
Type: article
Abstract: DOI 10.1002/ajmg.a.30653 In the above noted manuscript, the mutation was erroneously described as c.1513G > C. It should have been described as c.1525G > C. Both designations refer to amino acid substitution G509R. The former designation was based on PTCH1 GenBank reference number U43148. The correct designation, c.1525G > C is based on PTCH1 GenBank reference number NM_000264. The authors regret this error.
DOI: 10.1002/ajmg.a.30821
Institutions: United States Department of Health and Human Services, National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics, Children's National, University of Toronto, Hospital for Sick Children, Frederick National Laboratory for Cancer Research, Duke University
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W1972996060
