首页> 外文OA文献 >Prediction of Four Novel SNPs V17M, R11H, A66T, and F57S in the SBDS Gene Possibly Associated with Formation of Shwachman-Diamond Syndrome, using an Insilico Approach

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Prediction of Four Novel SNPs V17M, R11H, A66T, and F57S in the SBDS Gene Possibly Associated with Formation of Shwachman-Diamond Syndrome, using an Insilico Approach

机译：使用Insilico方法预测SBDS基因中的四种新型SNP v17m，R11h，A66t和F57s，其与Shuchman-Diamond综合征的形成相关

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Anfal Osama Mohamed Sati; Sara Ali Abdallah Ali; Rouaa Babikir Ahmed Abduallah; Manal Satti Awad Elsied; Mohamed Ahmed Salih;
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1. Genetic Analysis of Shwachman-Diamond Syndrome: Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations. [J] . Kawakami T, Mitsui T, Kanai M, The Tohoku Journal of Experimental Medicine . 2005,第3期

机译：Shwachman-Diamond综合征的遗传分析：携带相同SBDS突变的患者的表型异质性。
2. Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS [J] . Pediatric blood & cancer . 2013,第2期

机译：耗尽Shwachman-Diamond综合征蛋白SBDS的人类细胞的生长，造血集落形成和核糖体成熟受损
3. Gene Disruption of Zebrafish Sbds Phenocopies Human Shwachman-Diamond Syndrome but Suggests More Global and Lineage Defects [J] . Oyarbide Usua, Kell Margaret J., Farinas Javier, Blood: The Journal of the American Society of Hematology . 2016,第22期

机译：基因破坏斑马鱼SBDS现状人Shkbachman-钻石综合征，但暗示了更多的全球和谱系缺陷
4. Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back [C] . Johnson M. Liu, Jeffrey M. Lipton, Sridhar Mani Internatonal Conference on Bipolar Disorder . 2011

机译：Shuchman-Diamond综合征第六次国际大会：从患者到基因和后面
5. Identification and characterisation of the Shwachman-Diamond syndrome gene and its orthologues. [D] . Boocock, Graeme Roy Brooke. 2006

机译：Shwachman-Diamond综合征基因及其直系同源物的鉴定和表征。
6. Loss of the Mouse Ortholog of the Shwachman-Diamond Syndrome Gene (Sbds) Results in Early Embryonic Lethality [O] . Siyi Zhang, Mingjun Shi, Chi-chung Hui, 2006

机译：Shwachman-Diamond综合征基因（Sbds）的小鼠直系同源基因的丢失导致早期胚胎致死。
7. Mutation Screening of Elongation Factor 2 in Shwachman-Diamond Syndrome Patients Lacking Mutations in the SBDS Gene [O] . Elena Nicolis, Marco Cipolli 2013

机译：在缺乏SBDS基因中缺乏突变的SHWachman-Diamond综合征患者的突变筛选延长因子2
8. Identification of Genetic Co-Modifiers in Shwachman-Diamond Syndrome. [R] . Revskoy, S. 2013

机译：shwachman-Diamond综合征中遗传共修饰因子的鉴定。

Prediction of Four Novel SNPs V17M, R11H, A66T, and F57S in the SBDS Gene Possibly Associated with Formation of Shwachman-Diamond Syndrome, using an Insilico Approach

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