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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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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A Second Locus ( GLC3B ) for Primary Congenital Glaucoma (Buphthalmos) Maps to the 1p36 Region

By Akarsu A. Nurten   Turacli M. Erol   Aktan S. Gulderen   Barsoum-Homsy Magda   Chevrette Line   Sayli B. Sitki   Sarfarazi Mansoor  

Human Molecular Genetics, Vol. 5, Iss. 8, 1996-01 ,pp. : 1199-1203

Oxford University Press

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Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

By Patel N.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1369-1378

Oxford University Press

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Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

By Fukuoka Hisakuni   Kanda Yukihiko   Ohta Shuji   Usami Shin-ichi  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 510-515

Springer Publishing Company

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