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Your search keyword '"Boutboul S"' showing total 2 results
Start Over Author "Boutboul S" Topic corneal opacity
2 results on '"Boutboul S"'

1. [Fish eye disease revealing a partial LCAT deficiency].

Author

Bourcier T, Chibane S, Boutboul S, Abitbol M, Borderie V, Laroche L, and Héron E

Subjects
Adult, Humans, Lecithin Cholesterol Acyltransferase Deficiency etiology, Male, Mutation, Corneal Opacity etiology, Lecithin Cholesterol Acyltransferase Deficiency diagnosis, Phosphatidylcholine-Sterol O-Acyltransferase genetics
Published
2005
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2. Gene symbol: LCAT. Disease: Fish eye disease.

Author

Boutboul S, Bourcier T, Chibane S, Heron E, Borderie V, Abitbol M, and Laroche L

Subjects
Codon, Nonsense, Homozygote, Humans, Mutation, Missense, Corneal Opacity genetics, Hypolipoproteinemias genetics, Lecithin Cholesterol Acyltransferase Deficiency genetics, Phosphatidylcholine-Sterol O-Acyltransferase genetics
Published
2004

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