Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

Translated title of the contribution: Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

A.H. van der Hout, E. Verlind, F.A. Beemer, C.H.C.M. Buys, R.M.W. Hofstra, H Scheffer

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contributionOccurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome
Original languageUndefined/Unknown
Pages (from-to)236
Number of pages1
JournalHuman Mutation
Volume20
Issue number3
Publication statusPublished - 2002

Keywords

  • Econometric and Statistical Methods: General
  • Genetics
  • Geneeskunde(GENK)
  • Overig medisch onderzoek

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