Ein Kleinkind mit ungewöhnlich früher Tibiafraktur – Was steckt dahinter?
Author:
Publisher
Springer Berlin Heidelberg
Link
https://link.springer.com/content/pdf/10.1007/978-3-662-66617-3_35
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4. Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ (1998) Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet 62(1):98–110. https://doi.org/10.1086/301689
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