KERA cDNA ORF clone, Homo sapiens(human)

Analysis of KERA in four families with cornea plana identifies two novel mutations.
Dudakova L, Vercruyssen JHJ, Balikova I, Postolache L, Leroy BP, Skalicka P, Liskova P
Acta ophthalmologica96(1)e87-e91(2018 Feb)

Corneal ectasia in a boy with homozygous KERA mutation.
Khan AO
Ophthalmic genetics39(1)141-143(2018 Jan-Feb)

A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.
Kumari D, Tiwari A, Choudhury M, Kumar A, Rao A, Dixit M
Journal of glaucoma25(2)e106-9(2016 Feb)

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
Roos L, Bertelsen B, Harris P, Bygum A, Jensen H, Gr?nskov K, T?mer Z
BMC medical genetics1640(2015 Jun)

Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.
Maiwald S, Sivapalaratnam S, Motazacker MM, van Capelleveen JC, Bot I, de Jager SC, van Eck M, Jolley J, Kuiper J, Stephens J, Albers CA, Vosmeer CR, Kruize H, Geerke DP, van der Wal AC, van der Loos CM, Kastelein JJ, Trip MD, Ouwehand WH, Dallinga-Thie GM, Hovingh GK
PloS one9(5)e98289(2014)

The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease.
Title: A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.

a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form.
Title: Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.

Corneal endothelial disorders were found with compound mutations in KERA
Title: Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

rare variant in KERA was identified in a large kindred with premature atherosclerosis
Title: Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.

Observational study of gene-disease association. (HuGE Navigator)
Title: Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.