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Molecular Analysis and Novel Variation Identification of Chinese Pedigrees With Mucopolysaccharidosis Using Targeted Next-Generation Sequencing
source: Clinica chimica acta; international journal of clinical chemistry
year: 2022
authors: Fang X,Zhu C,Zhu X,Feng Y,Jiao Z,Duan H,Kong X,Liu N
summary/abstract:Mucopolysaccharidosis (MPS) refers to a group of lysosomal storage disorders for which seven types and 11 subtypes are currently recognized. Targeted next-generation sequencing (NGS) offers an important method of disease typing, diagnosis, prenatal diagnosis, and treatment.
organization: Obstetrics and Gynecology Department, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, 450052 PR China.DOI: 10.1016/j.cca.2021.11.019
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