Missense mutations in COL8A2 , the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

By Kielty C.  

Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2415-2423

Oxford University Press

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Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2 , cause primary congenital glaucoma

By Narooie-Nejad Mehrnaz   Paylakhi Seyed Hassan   Shojaee Seyedmehdi   Fazlali Zeinab   Rezaei Kanavi Mozhgan   Nilforushan Naveed   Yazdani Shahin   Babrzadeh Farbod   Suri Fatemeh   Ronaghi Mostafa   Elahi Elahe   Paisn-Ruiz Coro  

Human Molecular Genetics, Vol. 18, Iss. 20, 2009-10 ,pp. : 3969-3977

Oxford University Press

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Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

By Strauss Karsten M.  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2099-2111

Oxford University Press

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Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions

By Brandl Caroline   Schulz Heidi L.   Charbel Issa Peter   Birtel Johannes   Bergholz Richard   Lange Clemens   Dahlke Claudia   Zobor Ditta   Weber Bernhard H. F.   Stöhr Heidi  

Genes, Vol. 8, Iss. 7, 2017-06 ,pp. : 170-170

MDPI

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Mutations in the RPGR gene cause X-linked cone dystrophy

By Yang Z.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 605-611

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