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机译:ITPR1基因的一种新型剪接位点变体底层隐性刺痛综合征
Fdn IRCCS Ca Granda Osped Maggiore Policlin Div Pathol Milan Italy;
Fdn IRCCS Ca Granda Osped Maggiore Policlin Div Pathol Milan Italy;
Fdn IRCCS Ca Granda Osped Maggiore Policlin Pediat Highly Intens Care Unit Milan Italy;
Univ Milan Dept Pathophysiol &
Transplantat Via Francesco Sforza 35 I-20122 Milan Italy;
Fdn IRCCS Ca Granda Osped Maggiore Policlin Div Pathol Milan Italy;
Univ Milan Dept Hlth Sci Med Genet Milan Italy;
Fdn IRCCS Ca Granda Osped Maggiore Policlin Pediat Highly Intens Care Unit Milan Italy;
Fdn IRCCS Ca Granda Osped Maggiore Policlin Pediat Highly Intens Care Unit Milan Italy;
Univ Perugia Dept Surg &
Biomed Sci Pediat Clin Perugia Italy;
Fdn IRCCS Ca Granda Osped Maggiore Policlin Neuroradiol Unit Milan Italy;
Univ Milan Dept Pathophysiol &
Transplantat Via Francesco Sforza 35 I-20122 Milan Italy;
Fdn IRCCS Ca Granda Osped Maggiore Policlin Div Pathol Milan Italy;
Gillespie; ITPR1; next generation sequencing; spinocerebellar ataxia; splicing;
机译:ITPR1基因的一种新型剪接位点变体底层隐性刺痛综合征
机译:两种巴基斯坦患者的遗传学检测影响稀有常染色体隐性FANCONI-BINCELINS综合征的综合征,并进行了一种新型SLC2A2拼接部位变体
机译:南亚儿童的Gillespie综合征:一个案例报告,确认ITPR1基因的杂合突变并审查临床和分子特征
机译:具有内含性10 + 14剪接部位Tau基因突变模拟佩里综合征的胁迫
机译:人类遗传疾病的多种机制:COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
机译:隐性和显性De Novo ITPR1突变引起吉莱斯派综合征
机译:隐性和优势性从头ITPR1突变导致吉莱斯派综合征