Analysis of KERA in four families with cornea plana identifies two novel mutations.

scientific article published on 5 July 2017

Analysis of KERA in four families with cornea plana identifies two novel mutations. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/AOS.13484
P698PubMed publication ID28677912

P50authorPetra LiškováQ37829841
Ľubica ĎuďákováQ47504057
Pavlina SkalickaQ61088662
P2093author name stringIrina Balikova
Bart P Leroy
Jang Hee J Vercruyssen
Lavina Postolache
P2860cites workMutations in KERA, encoding keratocan, cause cornea planaQ22254060
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A method and server for predicting damaging missense mutationsQ27860835
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MutationTaster evaluates disease-causing potential of sequence alterationsQ29615749
Automated inference of molecular mechanisms of disease from amino acid substitutions.Q30380440
A novel KERA mutation associated with autosomal recessive cornea planaQ34348697
Predicting the functional effect of amino acid substitutions and indelsQ34441875
Clinical and molecular characterization of a family with autosomal recessive cornea planaQ34450351
Recessive cornea plana in the Kingdom of Saudi ArabiaQ34570269
Human Splicing Finder: an online bioinformatics tool to predict splicing signalsQ34973311
Functional annotations improve the predictive score of human disease-related mutations in proteinsQ34985914
Roles of lumican and keratocan on corneal transparencyQ35219622
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.Q35671036
A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.Q40946772
Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.Q43006685
Comparison of central corneal thickness and anterior chamber depth measured using LenStar LS900, Pentacam, and Visante AS-OCT.Q44912035
Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.Q45419005
Improved splice site detection in GenieQ46338894
Prediction of human mRNA donor and acceptor sites from the DNA sequenceQ48219047
Corneal decompensation in recessive cornea planaQ48397639
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signalsQ48531006
P433issue1
P921main subjectcornea planaQ18987135
P304page(s)e87-e91
P577publication date2017-07-05
P1433published inActa OphthalmologicaQ15716498
P1476titleAnalysis of KERA in four families with cornea plana identifies two novel mutations.
P478volume96

Reverse relations

Q91785377Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case reportcites workP2860