Associated Papers
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.
Matsushima N et al.
Journal of Cell Communication and Signaling, 2021
Analysis of KERA in four families with cornea plana identifies two novel mutations.
Dudakova L et al.
Acta Ophthalmologica, 2018
Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.
Dudakova L et al.
European Journal of Human Genetics : Ejhg, 2015
Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment.
Nischal KK
Cornea, 2015
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
Roos L et al.
Bmc Medical Genetics, 2015
Study of p.N247S KERA mutation in a British family with cornea plana.
Liskova P et al.
Molecular Vision, 2007
Recessive cornea plana in the Kingdom of Saudi Arabia.
Khan AO et al.
Ophthalmology, 2006
Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.
Matsushima N et al.
Cellular and Molecular Life Sciences : Cmls, 2005
Database for the mutations of the Finnish disease heritage.
Sipilä K et al.
Human Mutation, 2002
Mutations in KERA, encoding keratocan, cause cornea plana.
Pellegata NS et al.
Nature Genetics, 2000
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