Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

AJ van Essen*, IM Mulder, P van der Vlies, AH van der Hout, CHCM Buys, RMW Hofstra, JT den Dunnen

*Corresponding author for this work

Research output: Contribution to journalLetterAcademicpeer-review

24 Citations (Scopus)
Original languageEnglish
Pages (from-to)296-298
Number of pages3
JournalAmerican Journal of Medical Genetics. Part A
Volume118A
Issue number3
DOIs
Publication statusPublished - 30-Apr-2003

Keywords

  • LETHAL OSTEOGENESIS IMPERFECTA
  • DMD GENE
  • GERMINAL MOSAICISM
  • PARENTAL MOSAICISM
  • I COLLAGEN
  • CDNA
  • RECURRENCE
  • DELETIONS
  • IDENTIFICATION
  • HYBRIDIZATION

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