Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein...
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Contents
Cornea plana (CNA) is a hereditary congenital abnormality of the cornea characterized by reduced corneal curvature, extreme hypermetropia, corneal clouding and hazy corneal limbus. The recessive form, CNA2, is associated with homozygous or compound heterozygous mutations of the keratocan gene (KERA) on chromosome 12q22. To date, only nine different...
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Full title
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4630934
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4630934
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ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-015-0179-9
