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A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

✍ Scribed by Marja Majava; Kristien P. Hoornaert; Deborah Bartholdi; Mieke C. Bouma; Katelijne Bouman; Marta Carrera; Koenraad Devriendt; Jane Hurst; George Kitsos; Dunja Niedrist; Michael B. Petersen; Debbie Shears; Irene Stolte-Dijkstra; J.M. Van Hagen; Leena Ala-Kokko; Minna Männikkö; Geert R. Mortier

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 260 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31586

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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