Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: Roos, Laura, Bertelsen, Birgitte, Harris, Pernille, Bygum, Anette, Jensen, Hanne, Grønskov, Karen, Tümer, Zeynep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630934/
https://www.ncbi.nlm.nih.gov/pubmed/26099342
http://dx.doi.org/10.1186/s12881-015-0179-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630934/
https://www.ncbi.nlm.nih.gov/pubmed/26099342
http://dx.doi.org/10.1186/s12881-015-0179-9

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