Literature DB >> 11424925

A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.

E Grunebaum, E Arpaia, J J MacKenzie, J Fitzpatrick, P N Ray, C M Roifman.   

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Year:  2001        PMID： 11424925      PMCID： PMC1734897          DOI： 10.1136/jmg.38.6.409

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

Review 1.  Role of Rab GTPases in membrane traffic and cell physiology.

Authors:  Alex H Hutagalung; Peter J Novick
Journal:  Physiol Rev       Date:  2011-01       Impact factor: 37.312

2.  A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.

Authors:  Cai Zhang; Caiqi Du; Juan Ye; Feng Ye; Renfa Wang; Xiaoping Luo; Yan Liang
Journal:  BMC Med Genet       Date:  2020-05-29       Impact factor: 2.103

3.  A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.

Authors:  Li Zhang; Jinling Wang; Guanping Dong; Dingwen Wu; Wei Wu
Journal:  Medicine (Baltimore)       Date:  2021-03-19       Impact factor: 1.817

4.  SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.

Authors:  Jeshmi Jeyabalan; M Andrew Nesbit; Juris Galvanovskis; Richard Callaghan; Patrik Rorsman; Rajesh V Thakker
Journal:  PLoS One       Date:  2010-05-14       Impact factor: 3.240
  4 in total

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