Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

Investigative Ophthalmology and Visual Science - Tập 52 Số 6 - Trang 3730 - 2011
Alice E. Davidson1, Ian D. Millar2, Rosemary Burgess-Mullan1, Geoffrey J. Maher1, Jill Urquhart3, Peter de Nully Brown2, Graeme Black4,5, Forbes Manson1
1From the School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, United Kingdom;
2Faculty of Life Sciences, The University of Manchester, Manchester, United Kingdom
3National Genetics Reference Laboratory, St. Mary's Hospital, Manchester, United Kingdom; and
4From the School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, United Kingdom; 4Manchester Royal Eye Hospital, Central Manchester Universi
5Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom

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