Literature DB >> 19519795

A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.

R P Cotarelo, O Fano, M Raducu, A Peña, P Tarilonte, F Mateos, R Simón, A Cabello, J Cruces.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19519795     DOI： 10.1111/j.1399-0004.2009.01188.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  3 in total

1.  A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

Authors:  Ranad Shaheen; Eissa Faqeih; Shinu Ansari; Fowzan S Alkuraya
Journal:  Neurogenetics       Date:  2013-07-23       Impact factor: 2.660

2.  Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Authors:  Peter B Kang; Leslie Morrison; Susan T Iannaccone; Robert J Graham; Carsten G Bönnemann; Anne Rutkowski; Joseph Hornyak; Ching H Wang; Kathryn North; Maryam Oskoui; Thomas S D Getchius; Julie A Cox; Erin E Hagen; Gary Gronseth; Robert C Griggs
Journal:  Neurology       Date:  2015-03-31       Impact factor: 9.910

3.  Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.

Authors:  Lin Bai; Amanda Kovach; Qinglong You; Alanna Kenny; Huilin Li
Journal:  Nat Struct Mol Biol       Date:  2019-07-08       Impact factor: 15.369
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.