Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene

AIMS—To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea.
METHODS—A mutation screen of the entire coding region of the HGO gene was performed using s...

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Bibliografiska uppgifter
Huvudupphovsmän: Felbor, U., Mutsch, Y., Grehn, F., Muller, C., Kress, W.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1999
Ämnen:
Original articles - Clinical science
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1723057/
https://ncbi.nlm.nih.gov/pubmed/10340975
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