Article
Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes.
Genomics - 1 Dec 1999
Ferrell R E, Conte V, Lawrence E C, Roth S M, Hagberg J M, Hurley B F
Abstract excerpt
Myostatin is a recently identified member of the transforming growth factor-beta family of regulatory factors, also known as growth and differentiation factor 8 (GDF8). The nucleotide sequence of human myostatin was determined in 40 individuals. The invariant promoter contains a consensus MyoD binding site, and the coding sequence contains five missense substitutions in conserved amino acid residues (A55T, K153R,...
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