Literature DB >> 3266225

[A case of familial hypercholesterolemia associated with Schnyder's corneal dystrophy].

K Kajinami, A Inazu, T Wakasugi, J Koizumi, H Mabuchi, R Takeda.   

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Year:  1988        PMID: 3266225     DOI: 10.2169/naika.77.1017

Source DB:  PubMed          Journal:  Nihon Naika Gakkai Zasshi        ISSN: 0021-5384


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  3 in total

1.  Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis).

Authors:  Jayne S Weiss
Journal:  Trans Am Ophthalmol Soc       Date:  2007

2.  A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.

Authors:  Chunyu Du; Ying Li; Lili Dai; Lingmin Gong; Chengcheng Han
Journal:  Mol Vis       Date:  2011-10-15       Impact factor: 2.367

3.  Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

Authors:  Andrew Orr; Marie-Pierre Dubé; Julien Marcadier; Haiyan Jiang; Antonio Federico; Stanley George; Christopher Seamone; David Andrews; Paul Dubord; Simon Holland; Sylvie Provost; Vanessa Mongrain; Susan Evans; Brent Higgins; Sharen Bowman; Duane Guernsey; Mark Samuels
Journal:  PLoS One       Date:  2007-08-01       Impact factor: 3.240

  3 in total

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