(Q28267149)
Statements
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy (English)
T C Pan
R Z Zhang
M A Pericak-Vance
R Tandan
T Fries
J M Stajich
K Viles
M L Chu