Literature DB >> 8988160

P1148A in fibrillin-1 is not a mutation anymore.

M Wang, K R Mathews, K Imaizumi, S Beiraghi, B Blumberg, M Scheuner, J M Graham, M Godfrey.   

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Year:  1997        PMID： 8988160     DOI： 10.1038/ng0197-12

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  3 in total

1.  Detecting polymorphisms and mutations in candidate genes.

Authors:  Julianne S Collins; Charles E Schwartz
Journal:  Am J Hum Genet       Date:  2002-11       Impact factor: 11.025

2.  Unique sex-based approach identifies transcriptomic biomarkers associated with non-syndromic craniosynostosis.

Authors:  Brendan D Stamper; Sarah S Park; Richard P Beyer; Theo K Bammler; Michael L Cunningham
Journal:  Gene Regul Syst Bio       Date:  2012-05-16

3.  The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.

Authors:  Obaid M Albulym; Danqing Zhu; Stephen Reddel; Marina Kennerson; Garth Nicholson
Journal:  J Neurodegener Dis       Date:  2012-11-28
  3 in total

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