An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion.
Christian
C
Beetz
Anders O H
AO
Nygren
Thomas
T
Deufel
Evan
E
Reid
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D002648:Child; D005091:Exons; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D010375:Pedigree; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
D008565:Membrane Proteins; C440006:ATL1 protein, human; D000251:Adenosine Triphosphatases; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins; D000074181:Spastin; C400283:SPAST protein, human