换一批Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
第一单位：
Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO box 9101, 6500 HB Nijmegen, The Netherlands.
作者：
医学主题词
青少年(Adolescent);成年人(Adult);碱基序列(Base Sequence);中枢神经系统(Central Nervous System);儿童(Child);儿童, 学龄前(Child, Preschool);面容(Facies);女(雌)性(Female);基因顺序(Gene Order);基因, 隐性(Genes, Recessive);基因型(Genotype);人类(Humans);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);突变(Mutation);系谱(Pedigree);表型(Phenotype);磷脂酶类(Phospholipases);痉挛性截瘫, 遗传性(Spastic Paraplegia, Hereditary);青年人(Young Adult)
DOI
10.1016/j.ajhg.2012.10.017
PMID
23176823
发布时间
2022-04-08
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