Analysis of ALMS1 gene variants in seven patients with Alström syndrome[J].Chin J Med Genet,2021,38(2):112-116. DOI: 10.3760/cma.j.cn511374- 20200115-00033. [11] 张倩文, 丁宇, 常国营, 等. 2020年欧洲Alström综合...
PATSY M * NISHINAGAYLE B * COLLINW.VENUS * SOMITCHELL LEE * MARTINJUERGEN K * NAGGERTJAN * MARSHALL
ALMS is caused by a balanced translocation of chromosome 2p13 that disrupts ALMS1 gene or by a small number of mutations in this gene. From: Progress in Molecular Biology and Translational Science, 2016 About this pageSet alert Discover other topics On this page Definition Chapters and Articles...
These mice carry a del(c.3802-3812) mutation of Alms1 gene. 应用领域:Alström syndrome *使用本品系发表的文献需注明: Alms1-del(c.3802-3812) mice (Cat. NO. NM-KI-220067) were purchased from Shanghai Model Organisms Center, Inc.. 相关...
Ensembl Gene IDENSG00000290727.1 Ensembl mRNA IDALMS1P1-202 包装清单: 产品编号产品名称包装 QH67821SHuman ALMS1P1 qPCR Primer Pair1nmol each —说明书1份 保存条件: -20℃保存。建议复溶后进行适当分装,避免反复冻融。 注意事项: PCR扩增产物的长度可能会因基因转录后存在多种剪接形式而有所差异。
Ensembl Gene IDENSG00000290727.1 Ensembl mRNA IDALMS1P1-202 包装清单: 产品编号产品名称包装 QH67821SHuman ALMS1P1 qPCR Primer Pair1nmol each —说明书1份 保存条件: -20℃保存。建议复溶后进行适当分装,避免反复冻融。 注意事项: PCR扩增产物的长度可能会因基因转录后存在多种剪接形式而有所差异。
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene. Methods... F Nasser,N Weisschuh,P Maffei,... - 《Acta ...
Purpose:We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene. Methods:Seven patients with Alstrm syndrome (ALMS) were included in the study. A comprehensive ophthalmolo...
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome . Nature genetics . 2002; 31 ( 1 ):79–83. doi: 10.1038/ng874 .Hearn T, Renforth GL, Spalluto C, et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino...
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