Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online.

S. Feshchenko*, J. Brinckmann, H. W. Lehmann, H. G. Koch, P. K. Müller, S. Kügler

*Corresponding author for this work
13 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology