TY  - GEN
AU  - Falco,Michele
AU  - Scuderi,Carmela
AU  - Musumeci,Sebastiano
AU  - Sturnio,Maurizio
AU  - Neri,Marcella
AU  - Bigoni,Stefania
AU  - Caniatti,Luisa
AU  - Fichera,Marco
TI  - Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis
SN  - 0960-8966
PY  - 2005///0131
KW  - Adenosine Triphosphatases
KW  - Adult
KW  - Calcium-Binding Proteins
KW  - genetics
KW  - Child
KW  - Chromatography, High Pressure Liquid
KW  - methods
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - RNA, Messenger
KW  - biosynthesis
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Spastic Paraplegia, Hereditary
KW  - Spastin
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2004.05.017
ER  -