Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
Falco, Michele
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. [electronic resource] - Neuromuscular disorders : NMD Nov 2004 - 750-3 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0960-8966
10.1016/j.nmd.2004.05.017 doi
Adenosine Triphosphatases
Adult
Calcium-Binding Proteins--genetics
Child
Chromatography, High Pressure Liquid--methods
DNA Mutational Analysis--methods
Exons
Female
Humans
Male
Middle Aged
Mutation, Missense
RNA, Messenger--biosynthesis
Reverse Transcriptase Polymerase Chain Reaction--methods
Spastic Paraplegia, Hereditary--genetics
Spastin
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. [electronic resource] - Neuromuscular disorders : NMD Nov 2004 - 750-3 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0960-8966
10.1016/j.nmd.2004.05.017 doi
Adenosine Triphosphatases
Adult
Calcium-Binding Proteins--genetics
Child
Chromatography, High Pressure Liquid--methods
DNA Mutational Analysis--methods
Exons
Female
Humans
Male
Middle Aged
Mutation, Missense
RNA, Messenger--biosynthesis
Reverse Transcriptase Polymerase Chain Reaction--methods
Spastic Paraplegia, Hereditary--genetics
Spastin