Identification of a new heterozygous poi
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Sergej Feshchenko; JΓΌrgen Brinckmann; Hartwig W. Lehmann; Hans-Georg Koch; Peter
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Article
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1998
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John Wiley and Sons
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English
β 52 KB
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A heterozygous deletion of exon 9 in the COL1A2 -mRNA of a patient with symptoms of both the Ehlers -Danlos -Syndrome and the Osteogenesis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor