Identification of Three Different Truncating Mutations in Cytochrome P4501B1 ( CYP1B1 ) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21

By Stoilov Ivaylo   Akarsu A. Nurten   Sarfarazi Mansoor  

Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 641-647

Oxford University Press

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Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from Slovakia

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Human Heredity, Vol. 48, Iss. 1, 1998-01 ,pp. : 30-33

Karger

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Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus

By Bejjani Bassem A.  

Human Molecular Genetics, Vol. 9, Iss. 3, 2000-02 ,pp. : 367-374

Oxford University Press

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A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma

By Chakrabarti Subhabrata   Ghanekar Yashoda   Kaur Kiranpreet   Kaur Inderjeet   Mandal Anil K.   Rao Kollu N.   Parikh Rajul S.   Thomas Ravi   Majumder Partha P.  

Human Molecular Genetics, Vol. 19, Iss. 20, 2010-10 ,pp. : 4083-4090

Oxford University Press

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The Primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stressresponse pathway

By Skarie Jonathan M.   Link Brian A.  

Human Molecular Genetics, Vol. 17, Iss. 16, 2008-08 ,pp. : 2474-2485

Oxford University Press

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