Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev, Miroslav P
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. [electronic resource] - Scientific reports Oct 2019 - 14036 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
2045-2322
10.1038/s41598-019-50415-6 doi
Brain--diagnostic imaging
Child, Preschool
Female
Gene Frequency
Genetic Diseases, Inborn--genetics
Genetic Variation--genetics
Humans
Infant
Magnetic Resonance Imaging
Male
Muscle Hypotonia--genetics
Muscle, Skeletal--pathology
Vesicular Transport Proteins--chemistry
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. [electronic resource] - Scientific reports Oct 2019 - 14036 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
2045-2322
10.1038/s41598-019-50415-6 doi
Brain--diagnostic imaging
Child, Preschool
Female
Gene Frequency
Genetic Diseases, Inborn--genetics
Genetic Variation--genetics
Humans
Infant
Magnetic Resonance Imaging
Male
Muscle Hypotonia--genetics
Muscle, Skeletal--pathology
Vesicular Transport Proteins--chemistry