Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma

By Ohtake Yuichiro   Kubota Ryo   Tanino Tomihiko   Miyata Hiroshi   Mashima Yukihiko  

Ophthalmic Genetics, Vol. 21, Iss. 3, 2000-09 ,pp. : 191-193

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Ophthalmic manifestations of congenital disorder of glycosylation type 1a

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Ophthalmic Genetics, Vol. 24, Iss. 2, 2003-06 ,pp. : 81-88

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Molecular Analysis of the CYP1B1 Gene: Identification of Novel Truncating Mutations in Patients with Primary Congenital Glaucoma

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Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador

By Curry Stacey M.   Daou Aline G.   Hermanns Pia   Molinari Andrea   Lewis Richard Alan   Bejjani Bassem A.  

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Autosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2

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