Article
Study of p.N247S KERA mutation in a British family with cornea plana.
Molecular vision - 27 Jul 2007
Liskova Petra, Hysi Pirro G, Williams Denise, Ainsworth John R, Shah Sunil, de la Chapelle Albert, Tuft Stephen J, Bhattacharya Shomi S
Abstract excerpt
PURPOSE: To report clinical and genetic findings in a white British family with autosomal recessive cornea plana (CNA2) with a negative history for consanguinity. To look for evidence of a common ancestry with previously reported Finnish CNA2 patients by studying haplotypes. METHODS: Clinical examination and direct sequencing of the keratocan (KERA) gene was performed in two siblings affected with CNA2 and one...
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