Clinical application of single ‐molecule optical mapping to a multigeneration FSHD1 pedigree

ConclusionBased on our findings, we propose that SMOM is a reliable and accurate technique suitable for the molecular diagnosis of FSHD1.

Source: Molecular Genetics & Genomic Medicine - January 21, 2019 Category: Genetics & Stem Cells Authors: Qian Zhang, Xueqin Xu, Lirong Ding, Huanzheng Li, Chengyang Xu, Yuyan Gong, Ying Liu, Ting Mu, Don Leigh, David S. Cram, Shaohua Tang Tags: ORIGINAL ARTICLE Source Type: research