A Novel TGFBI Phenotype with Amyloid Deposits and Arg124Leu Mutation

Publisher： Karger

E-ISSN： 1423-0259|46|3|164-167

ISSN： 0030-3747

Source： Ophthalmic Research, Vol.46, Iss.3, 2011-03, pp. : 164-167

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Phenotype Associated with the H626P Mutation and Other Changes in the TGFBI Gene in Czech Families

By  

Ophthalmic Research, Vol. 40, Iss. 2, 2008-02 ,pp. : 105-108

Karger

Access to resources Recommend Favorite

Novel L558P Mutation of the TGFBI Gene Found in Ukrainian Families with Atypical Corneal Dystrophy

By  

Ophthalmologica, Vol. 223, Iss. 3, 2009-02 ,pp. : 207-214

Karger

Access to resources Recommend Favorite

An Unusual Presentation of Macular Corneal Dystrophy Associated with Uniparental Isodisomy and a Novel Leu173Pro Mutation

By Yellore Vivek   Sonmez Baris   Chen Michael   Rayner Sylvia   Thonar Eugene   Aldave Anthony  

Ophthalmic Genetics, Vol. 28, Iss. 3, 2007-07 ,pp. : 169-174

Informa Healthcare

Access to resources Recommend Favorite

A Novel Homozygous Gly107Arg Mutation in the RDH5 Gene in a Japanese Patient with Fundus albipunctatus with Sectorial Retinitis pigmentosa

By  

Ophthalmic Research, Vol. 36, Iss. 1, 2004-03 ,pp. : 43-50

Karger

Access to resources Recommend Favorite

TGFBI Gene Mutation Analysis in Families with Hereditary Corneal Dystrophies from Ukraine

By  

Ophthalmologica, Vol. 218, Iss. 6, 2004-11 ,pp. : 411-414

Karger

Access to resources Recommend Favorite