Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.
Lin
Pengfei
P
Mao
Fei
F
Liu
Qiji
Q
Shao
Changshun
C
Yan
Chuanzhu
C
Gong
Yaoqin
Y
D000328:Adult; D000649:Amniocentesis; D002681:China; D002874:Chromosome Mapping; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis* / Q000235:genetics*
D026901:Membrane Transport Proteins; C484549:SLC33A1 protein, human