Literature DB >> 3346018

Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.

J J Pernelle1, P Chafey, J Chelly, J P Wahrmann, J C Kaplan, F Tomé, M Fardeau.   

Abstract

The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product.

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Year:  1988        PMID： 3346018     DOI： 10.1007/bf00291678

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  Is nebulin the defective gene product in Duchenne muscular dystrophy?

Authors:  D S Wood; M Zeviani; A Prelle; E Bonilla; G Salviati; A F Miranda; S DiMauro; L P Rowland
Journal:  N Engl J Med       Date:  1987-01-08       Impact factor: 91.245

2.  Purification of titin and nebulin.

Authors:  K Wang
Journal:  Methods Enzymol       Date:  1982       Impact factor: 1.600

3.  Identification of an N2 line protein of striated muscle.

Authors:  K Wang; C L Williamson
Journal:  Proc Natl Acad Sci U S A       Date:  1980-06       Impact factor: 11.205

4.  Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

Authors:  A P Monaco; R L Neve; C Colletti-Feener; C J Bertelson; D M Kurnit; L M Kunkel
Journal:  Nature       Date:  1986 Oct 16-22       Impact factor: 49.962

5.  Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

Authors:  J Chelly; F Marlhens; B Dutrillaux; G J Van Ommen; M Lambert; B Haioun; G Boissinot; M Fardeau; J C Kaplan
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132
  5 in total

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