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Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients

AIM—To confirm the mutation of the keratoepithelin gene in patients with a severe form of superficial juvenile granular corneal dystrophy (GCD).
METHODS—Five Japanese probands in whom GCD was diagnosed after histopathological examination and who developed severe manifestations of GCD in their first...

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Библиографические подробности
Главные авторы: Mashima, Y., Konishi, M., Nakamura, Y., Imamura, Y., Yamada, M., Ogata, T., Kudoh, J., Shimizu, N.
Формат: Artigo
Язык:Inglês
Опубликовано: 1998
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1722402/
https://ncbi.nlm.nih.gov/pubmed/9924333
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