Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
全外显子组测序在一名患有骨硬化症的伊朗患者中发现了一种新的变异。
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.1118
Razmara, Ehsan; Azimi, Homeyra; Bitaraf, Amirreza; Daneshmand, Mohammad Ali; Galehdari, Mohammad; Dokhanchi, Maryam; Esmaeilzadeh-Gharehdaghi, Elika; Garshasbi, Masoud