当前位置：
X-MOL 学术
›
Mol. Genet. Genomic Med.
›
论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-09-16 , DOI: 10.1002/mgg3.1804 Amelle Shillington 1 , Alonso Zea Vera 2 , Tanya Perry 3 , Robert Hopkin 1 , Cameron Thomas 2 , David Cooper 3 , Kristen Suhrie 4
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-09-16 , DOI: 10.1002/mgg3.1804 Amelle Shillington 1 , Alonso Zea Vera 2 , Tanya Perry 3 , Robert Hopkin 1 , Cameron Thomas 2 , David Cooper 3 , Kristen Suhrie 4
Affiliation
Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1-related myopathies (RYR1-RM); the most common subgroup of congenital myopathies.
中文翻译：
临床 RNA 测序在患有先天性肌病、呼吸衰竭、新生儿脑出血和大动脉 d 转位的患者中证实了 RYR1 中的复合杂合内含子变异
RYR1 ( OMIM#180901) 基因的缺陷导致 Ryanodine 受体 1 型相关肌病 (RYR1-RM)；先天性肌病最常见的亚组。
更新日期：2021-11-10
中文翻译：
临床 RNA 测序在患有先天性肌病、呼吸衰竭、新生儿脑出血和大动脉 d 转位的患者中证实了 RYR1 中的复合杂合内含子变异
RYR1 ( OMIM#180901) 基因的缺陷导致 Ryanodine 受体 1 型相关肌病 (RYR1-RM)；先天性肌病最常见的亚组。
京公网安备 11010802027423号