Condition: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
rs104894490
in
NIPA1
gene and
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
PMID 15643603
2005 Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.
PMID 14508710
2003 NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
PMID 23850684
2013 A diagnostic gene chip for hereditary spastic paraplegias.
PMID 17928003
2008 Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.