机译:3例巴勒斯坦II型眼皮肤酪氨酸血症的TAT基因突变分析;沉默外显子颠倒的特征,通过外显子11跳跃导致完全错配
Department of Clinical Biochemistry Hadassah – Hebrew University Medical Center;
Research Unit for Molecular Medicine Aarhus University Hospital and Faculty of Health Sciences and Institute of Human Genetics Aarhus University;
Research Unit for Molecular Medicine Aarhus University Hospital and Faculty of Health Sciences and Institute of Human Genetics Aarhus University;
Department of Genetics Hadassah – Hebrew University Medical Center;
Department of Genetics Hadassah – Hebrew University Medical Center;
Department Dermatology Hadassah – Hebrew University Medical Center;
Department of Clinical Biochemistry Hadassah – Hebrew University Medical Center;
Department of Clinical Biochemistry Hadassah – Hebrew University Medical Center;
机译:3例巴勒斯坦II型眼皮肤酪氨酸血症的TAT基因突变分析;沉默外显子颠倒的特征,通过外显子11跳跃导致完全错配。
机译:MYH7基因的从头外显子突变导致早发性肌无力和纤维类型失调的患者出现外显子跳跃
机译:PDHA1基因中的两个沉默取代通过推定外显子剪接增强子的破坏导致外显子5跳跃。
机译:印度尼西亚黏膜多种术患者锰酸二磺酸盐酶II型患者近磺酸2-硫酸酶基因的外显子8突变蛋白质分析
机译:前列腺癌中II类固醇5α-还原酶的体细胞突变的生化分析。
机译:Spectrin Rouen(beta 220-218)一种新的缩短的β-链变体具有遗传性细胞增多症。分子缺陷的表征是由于剪接位点突变而导致的外显子跳跃。
机译:Spectrin Rouen(beta 220-218),一种新的缩短的β-链变体,具有遗传性细胞增多症。分子缺陷的表征是由于剪接位点突变而导致的外显子跳跃。