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Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T)

机译：急性间歇性卟啉：卟酚脱氨基酶基因中两种新突变的表征，一种氨基酸缺失（453-455℃）和一种剪接敏感性位点突变（IVS8-1G> T）

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Adriana De Siervi; Manuel Mendez; Victoria Estela Parera; Laura Varela; Alcira M. del C. Batlle; Maria Victoria Rossetti;
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年度 1999
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1. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria. [J] . Puy H, Gross U, Deybach JC, Human Genetics . 1998,第5期

机译：急性间歇性卟啉症的非红系变体形式中的胆色素胆碱脱氨酶基因中的外显子1供体剪接位点突变。
2. Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP) [J] . Francesca Granata, Manuel Mendez, Valentina Brancaleoni, Molecular genetics and metabolism . 2018,第3期

机译：分子表征，通过急性间歇性卟啉症（AIP）患者患有普遍同学（AIP）的四HMBS基因突变的数码PCR分析。
3. A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Tafrvanese patient with acute intermittent porphyria [J] . Jun-ichi Sakabe, Shinji Susa, Makoto Daimon, Blood cells, molecules and diseases . 2008,第2期

机译：Tafrvanese急性间歇性卟啉症患者中胆磷脂原脱氨酶基因第15外显子的新的12个碱基对缺失突变
4. Tauopathy with intronic 10+14 splice site tau gene mutation mimicking Perry syndrome [C] . Omoto Masatoshi, Suzuki Satoshi, Ikeuchi Takeshi, International Congress of Neuropathology . 2010

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
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

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。
6. Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5 splice site causes skipping of exon 3. [O] . D H Llewellyn, G A Scobie, A J Urquhart, 1996

机译：胆卟啉原脱氨酶RNA的错误剪接引起的急性间歇性卟啉症：在距5剪接位点-22 bp处的同义密码子突变导致外显子3的跳跃。
7. Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3. [O] . Llewellyn, D H, Scobie, G A, Urquhart, A J, 1996

机译：胆卟啉原脱氨酶RNA的错误剪接引起的急性间歇性卟啉症：在距5'剪接位点-22 bp处的同义密码子突变导致外显子3的跳跃。

Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T)

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