Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

按检索

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing

Authors:	Jillian Casey Karen Flood Sean Ennis Emma Doyle Michael Farrell Sally Ann Lynch

Institution:	1. Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland;2. Royal College of Surgeons in Ireland, RCSI Unit, Rotunda Hospital, Dublin, Ireland;3. UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland;4. Rotunda Hospital, Dublin, Ireland;5. Department of Neuropathology, Beaumont Hospital, Dublin, Ireland;6. Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland

Abstract:

Keywords: