Literature DB >> 19012342

Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome.

Guy G Hoffman1, Gerald E Dodson, William G Cole, Daniel S Greenspan.   

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Year:  2008        PMID： 19012342     DOI： 10.1002/ajmg.a.32586

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

1.  Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.

Authors:  R Holt; S A Ugur Iseri; A W Wyatt; D A Bax; D Gold Diaz; C Santos; S Broadgate; R Dunn; J Bruty; Y Wallis; D McMullan; C Ogilvie; D Gerrelli; Y Zhang; Nicola Ragge
Journal:  Hum Genet       Date:  2016-11-14       Impact factor: 4.132
  1 in total

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