- Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine proteaseAndreas Gal
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Am J Hum Genet 88:382-90. 2011..1 in two large Faroese families. We detected three different mutations in PRSS56. Patients of the Faroese families were either homozygous for c.926G>C (p.Trp309Ser) or compound heterozygous for c...
- Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and miceK Saidas Nair
Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, USA
Nat Genet 43:579-84. 2011..Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG...
- Mutations in a novel serine protease PRSS56 in families with nanophthalmosAndrew Orr
Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
Mol Vis 17:1850-61. 2011..Identification of additional genes for nanophthalmos will improve our understanding of normal developmental regulation of eye growth...