Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

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Volume 17, Issue 7 , Pages 547-557, July 2007

Rachel A. Peat
- The Neurogenetics Research Unit, Children’s Hospital at Westmead and the Discipline of Paediatrics and Child Health, University of Sydney, Australia
- These authors contributed equally to this work.
Naomi L. Baker
- Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, 3052 Vic., Australia
- These authors contributed equally to this work.
Kristi J. Jones
- The Neurogenetics Research Unit, Children’s Hospital at Westmead and the Discipline of Paediatrics and Child Health, University of Sydney, Australia
- Western Sydney Genetics Programme, Children’s Hospital at Westmead, Sydney, Australia
Kathryn N. North
- The Neurogenetics Research Unit, Children’s Hospital at Westmead and the Discipline of Paediatrics and Child Health, University of Sydney, Australia
Shireen R. Lamandé
- Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, 3052 Vic., Australia
- Corresponding author. Tel.: +61 3 9345 6650; fax: +61 3 9345 7997.