Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients.
作者信息
Bradinova Irena, Andonova Silvia, Vazharova Radoslava, Tomova Stiliyana, Balabanski Lubomir, Savov Alexey
机构信息
Department of Obstetrics and Gynecology, National Genetic Laboratory, Medical University Sofia, Sofia, Bulgaria.
Faculty of Medicine, Department of Biology, Medical Genetics and Microbiology, SU "St. Kl. Ohridski", Sofia, Bulgaria.
出版信息
Clin Genet. 2022 Jul;102(1):78-79. doi: 10.1111/cge.14130. Epub 2022 Mar 26.
PMID:35338657
Abstract
摘要
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