The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency.
van Dijk, Sabine J
The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency. [electronic resource] - Archives of biochemistry and biophysics 07 2016 - 133-40 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1096-0384
10.1016/j.abb.2016.01.006 doi
Alanine--chemistry
Animals
Cardiomyopathy, Hypertrophic--metabolism
Carrier Proteins--genetics
Cats
Circular Dichroism
Codon, Terminator
Haploinsufficiency
Heart--physiopathology
Immunohistochemistry
Muscle Cells--cytology
Mutation
Mutation, Missense
Myocardium--metabolism
Proline--chemistry
Protein Conformation
Protein Domains
Protein Structure, Secondary
Recombinant Proteins--genetics
Sarcomeres--metabolism
The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency. [electronic resource] - Archives of biochemistry and biophysics 07 2016 - 133-40 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1096-0384
10.1016/j.abb.2016.01.006 doi
Alanine--chemistry
Animals
Cardiomyopathy, Hypertrophic--metabolism
Carrier Proteins--genetics
Cats
Circular Dichroism
Codon, Terminator
Haploinsufficiency
Heart--physiopathology
Immunohistochemistry
Muscle Cells--cytology
Mutation
Mutation, Missense
Myocardium--metabolism
Proline--chemistry
Protein Conformation
Protein Domains
Protein Structure, Secondary
Recombinant Proteins--genetics
Sarcomeres--metabolism