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机译:复合杂合的PANK2突变确认竖琴和Hallervorden-Spatz综合症是等位基因。
Department of Neurology, Royal Free Hospital, London, UK.;
Nervous System; pantothenate kinase 2; Hallervorden-Spatz diseaseMutation;
机译:Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family
机译:Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene
机译:Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations
机译:Hallervorden-Spatz综合征*PANK2和老虎的眼睛
机译:a novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene