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机译:后柱共济失调,具有视网膜炎的皮肤病与感官自主神经病变和白血病,由于纯合P.Pro221Ser FLVCR1突变
IRCCS Casa Sollievo Sofferenza UOC Genet Med Foggia Italy;
Sapienza Univ San Camillo Forlanini Hosp Div Lab Med Genet Dept Mol Med Rome Italy;
Friedrich Schiller Univ Jena Jena Univ Hosp Inst Human Genet Jena Germany;
IRCCS Fdn C Besta Neurol Inst Dept Clin Neurosci Neurol Rare Dis Adulthood Unit Milan Italy;
IRCCS Fdn C Besta Neurol Inst Dept Clin Neurosci Neurol Rare Dis Adulthood Unit Milan Italy;
Sapienza Univ San Camillo Forlanini Hosp Div Lab Med Genet Dept Mol Med Rome Italy;
Univ Torino Dept Mol Biotechnol &
Hlth Sci Mol Biotechnol Ctr Turin Italy;
Rhein Westfal TH Aachen Inst Human Genet Med Fac Aachen Germany;
Univ Torino Dept Mol Biotechnol &
Hlth Sci Mol Biotechnol Ctr Turin Italy;
FLVCR1a; FLVCR1b; heme; HSAN; retinitis pigmentosa; sensory neuropathy;
机译:后柱共济失调,具有视网膜炎的皮肤病与感官自主神经病变和白血病,由于纯合P.Pro221Ser FLVCR1突变
机译:FLVCR1基因的新突变导致常染色体隐性后柱共济失调合并色素性视网膜炎
机译:后柱共济失调和色素性视网膜炎中FLVCR1的突变导致血红素输出活性的丧失
机译:调查导致常染色体显性遗传性视网膜色素变性的两个普遍表达的管家基因突变的致病性。
机译:FLVCR1突变导致后柱共济失调和色素性视网膜炎
机译:FLVCR1突变导致后柱共济失调和色素性视网膜炎