Literature DB >> 25381353

Hexokinase 1 and retinitis pigmentosa: insights into the retina and the molecule.

J Fielding Hejtmancik1.   

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Year:  2014        PMID： 25381353      PMCID： PMC4575088          DOI： 10.1167/iovs.14-15621

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN： 0146-0404            Impact factor:   4.799


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  2 in total

1.  A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

Authors:  Janina Hantke; David Chandler; Rosalind King; Ronald J A Wanders; Dora Angelicheva; Ivailo Tournev; Elyshia McNamara; Marcel Kwa; Velina Guergueltcheva; Radka Kaneva; Frank Baas; Luba Kalaydjieva
Journal:  Eur J Hum Genet       Date:  2009-06-17       Impact factor: 4.246

2.  A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

Authors:  Lori S Sullivan; Daniel C Koboldt; Sara J Bowne; Steven Lang; Susan H Blanton; Elizabeth Cadena; Cheryl E Avery; Richard A Lewis; Kaylie Webb-Jones; Dianna H Wheaton; David G Birch; Razck Coussa; Huanan Ren; Irma Lopez; Christina Chakarova; Robert K Koenekoop; Charles A Garcia; Robert S Fulton; Richard K Wilson; George M Weinstock; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-09-04       Impact factor: 4.799
  2 in total

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