학술논문

Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta.
Document Type
Article
Source
Frontiers in Genetics; 8/14/2020, Vol. 11, pN.PAG-N.PAG, 11p
Subject
OSTEOGENESIS imperfecta
SKELETAL dysplasia
RECESSIVE genes
DYSTROPHY
GENETIC testing
DELETION mutation
HUMAN chromosome abnormality diagnosis
Language
ISSN
16648021
Abstract
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