CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.-论文-万方医学网

作者： Cyril,Goizet ^[1] ; Amir,Boukhris ; Alexandra,Durr ; Christian,Beetz ; Jeremy,Truchetto ; Christelle,Tesson ; Maria,Tsaousidou ; Sylvie,Forlani ; Lucie,Guyant-Maréchal ; Bertrand,Fontaine ; João,Guimarães ; Bertrand,Isidor ; Olivier,Chazouillères ; Dominique,Wendum ; Djamel,Grid ; Françoise,Chevy ; Patrick F,Chinnery ; Paula,Coutinho ; Jean-Philippe,Azulay ; Imed,Feki ; Fanny,Mochel ; Claude,Wolf ; Chokri,Mhiri ; Andrew,Crosby ; Alexis,Brice ; Giovanni,Stevanin

作者单位： INSERM/UPMC UMR_S 975 (ex U679), CRicm, Bat. Pharmacie, Pitié-Salpêtrière Hospital, 47 Boulevard de l'Hôpital, Paris Cedex 13, France. ^[1]

主题词青少年(Adolescent);成年人(Adult);老年人(Aged);动物(Animals);碱基序列(Base Sequence);脑(Brain);密码子, 无义(Codon, Nonsense);女(雌)性(Female);基因, 隐性(Genes, Recessive);遗传变异(Genetic Variation);杂合子(Heterozygote);人类(Humans);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);中年人(Middle Aged);突变, 误义(Mutation, Missense);系谱(Pedigree);点突变(Point Mutation);痉挛性截瘫, 遗传性(Spastic Paraplegia, Hereditary);种特异性(Species Specificity);甾类羟化酶类(Steroid Hydroxylases);青年人(Young Adult)

DOI 10.1093/brain/awp073

PMID 19439420

发布时间 2022-04-08

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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

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