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  1. ... of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol. 2004 Jul;56(1):86- ... caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238- ...
  2. ... Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat. 2009 Sep;30(9):1267- ... Laing NG. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. ...
  3. ... DT, Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat ... Smith RJ, Friderici KH. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/ ...
  4. ... Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat. 2009 Sep;30(9):1267- ... caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord. 2003 Sep;13(7-8): ...
  5. ... DT, Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat ... Central Su Y, Kondrikov D, Block ER. Beta-actin: a regulator of NOS-3. Sci STKE. 2007 Sep 18;2007(404):pe52. Review. Citation on PubMed ... ACTB gene is found on chromosome 7 . Related Health Topics ...
  6. ... DT, Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat ...
  7. ... caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238- ... caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord. ... C. Abnormal actin binding of aberrant β-tropomyosins is a molecular ...
  8. ... mutations in the KRAS gene, and the beta-actin gene (used as a reference gene for quantity of ...
  9. ... novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. ... PMC PubMed Central citations PubMed Links to ... γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). [ ...
  10. ... novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. ...
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