Spinal Muscular Atrophy Among US Hutterites: Phenotype Variability in the Setting of Conserved Ancestral Haplotype and 4 SMN2 Copies.

求助中 10 由 zm 发布于 2026/2/24 10:41:32

DOI:10.1016/j.gim.2026.102535
作者：Matthew E R Butchbach,?Jennifer J Kale,?Sarah D Simeone,?Jin Yun Helen Chen,?Rebecca L Anderson,?Adriana Y Prichina,?Daniela Del Gaudio,?Deborah L Stabley,?Jennifer Holbrook,?Eliad Culcea,?Carole Ober
文献类型：期刊论文
补充材料：只需要正文

Elsevier

Abstract：Purpose: Ideal timing and treatment in asymptomatic newborns with 4 SMN2 copies remains controversial. We examined phenotypic variability among the Hutterite population with spinal muscular

应助信息

等您来应助

上传文件

请确保您上传的文献材料真实、完整，且未作任何人为改动
文件格式pdf、docx、zip、txt。文件大小不超过50MB。
在线压缩PDF 电子书转换PDF

13小时前

Book学术机器人

2026/2/24 10:41:32 未找到该文献，机器人已退出，请等待人工下载

2026/2/24 10:41:32 Book学术AI机器人收到请求，开始寻找文献

2026/2/24 10:41:32 已向机器人发送请求

13小时前

zm 发布求助

上一个求助:其它数据库Naturally Fractured Carbonate Reservoir Characterization: A Case Study of a Mature High-Pour Point Oil Field in Hungary 下一个求助:Royal Society of Chemistry (RSC)Preparation of high-quality lithium sulfide by reducing lithium sulfate with hydrogen: a green and cost-effective method?