Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
BISWAS, Susmito, MUNIER, Francis L, HACKETT, Anna, BONSHEK, Richard, RIDGWAY, Alan, MCLEOD, David, SHEFFIELD, Val C, STONE, Edwin M, SCHORDERET, Daniel F, BLACK, Graeme C. M, YARDLEY, Jill, HART-HOLDEN, Niki, PERVEEN, Rahat, COUSIN, Pascal, SUTPHIN, John E, NOBLE, Bruce, BATTERBURY, Mark, KIELTY, Cay
Published in Human molecular genetics (01.11.2001)
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Published in Human molecular genetics (01.11.2001)
Journal Article
Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
Yardley, Jill, Leroy, Bart P, Hart-Holden, Niki, Lafaut, Bart A, Loeys, Bart, Messiaen, Ludwine M, Perveen, Rahat, Reddy, M. Ashwin, Bhattacharya, Shomi S, Traboulsi, Elias, Baralle, Diana, De Laey, Jean-Jacques, Puech, Bernard, Kestelyn, Philippe, Moore, Anthony T, Manson, Forbes D. C, Black, Graeme C. M
Published in Investigative ophthalmology & visual science (01.10.2004)
Published in Investigative ophthalmology & visual science (01.10.2004)
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Journal Article
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
JAMIESON, Robyn V, PERVEEN, Rahat, BLACK, Graeme C. M, KERR, Bronwyn, CARETTE, Martin, YARDLEY, Jill, HEON, Elise, WIRTH, M. Gabriela, VAN HEYNINGEN, Veronica, DONNAI, Di, MUNIER, Francis
Published in Human molecular genetics (2002)
Published in Human molecular genetics (2002)
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Journal Article
Missense mutations in COL8A2, the gene encoding the [alpha]2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
Biswas, Susmito, Munier, Francis L, Yardley, Jill, Hart-Holden, Niki, Perveen, Rahat, Cousin, Pascal, Sutphin, John E, Noble, Bruce, Batterbury, Mark, Kielty, Cay, Hackett, Anna, Bonshek, Richard, Ridgway, Alan, McLeod, David, Sheffield, Val C, Stone, Edwin M
Published in Human molecular genetics (01.10.2001)
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Published in Human molecular genetics (01.10.2001)
Journal Article