X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
第一作者:
M,Wichers
第一单位:
Department of Clinical Biochemistry, University of Bonn, Germany.
作者:
主题词
ATP结合匣式转运子(ATP-Binding Cassette Transporters);青少年(Adolescent);肾上腺脑白质营养不良(Adrenoleukodystrophy);成年人(Adult);发病年龄(Age of Onset);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);移码突变(Frameshift Mutation);基因连锁(Genetic Linkage);基因型(Genotype);杂合子(Heterozygote);人类(Humans);男(雄)性(Male);膜蛋白质类(Membrane Proteins);突变(Mutation);突变, 误义(Mutation, Missense);表型(Phenotype);X染色体(X Chromosome)
DOI
10.1007/s004399900090
PMID
10480364
发布时间
2019-07-22
- 浏览4
Human genetics
116-9页
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