v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease

Abstrakt

The authors report a new 4 base insertion in exon 30 of COL1A1 gene in a Czech girl with an atypical phenotype of osteogenesis imperfecta syndrome type I.

Klíčová slova

• Olga Maříková
• 221951622 osteogenesis imperfecta
• insertion
• col1A1 gene
• exon 30