Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-022-01899-x.pdf
Reference39 articles.
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4. Bateman JF, Lamande SR, Dahl HH, Chan D, Cole WG (1988) Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. J Biol Chem 263:11627–11630
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