Literature DB >> 7677158

X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males.

R Happle.   

Abstract

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Year:  1995        PMID： 7677158     DOI： 10.1002/ajmg.1320570327

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  2 in total

1.  Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.

Authors:  Masayuki Mori; Guixin Li; Ikuro Abe; Jun Nakayama; Zhanjun Guo; Jinko Sawashita; Tohru Ugawa; Shoko Nishizono; Tadao Serikawa; Keiichi Higuchi; Seigo Shumiya
Journal:  J Clin Invest       Date:  2006-01-26       Impact factor: 14.808

2.  Quantification of dolichol in the human lens with different types of cataracts.

Authors:  Devarshi Gajjar; Adam Jozwiak; Ewa Swiezewska; Bhagwat Alapure; Trilok Parmar; Kaid Johar; Abhay R Vasavada
Journal:  Mol Vis       Date:  2009-08-11       Impact factor: 2.367
  2 in total

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