TY  - GEN
AU  - Lund,Am
AU  - Joensen,F
AU  - Christensen,E
AU  - Dunø,M
AU  - Skovby,F
AU  - Schwartz,M
TI  - A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype
SN  - 1399-0004
PY  - 2008///0229
KW  - Child, Preschool
KW  - Collagen Type I
KW  - chemistry
KW  - Collagen Type I, alpha 1 Chain
KW  - Ehlers-Danlos Syndrome
KW  - genetics
KW  - Family
KW  - Humans
KW  - Male
KW  - Mutation, Missense
KW  - Osteogenesis Imperfecta
KW  - Protein Structure, Secondary
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1111/j.1399-0004.2007.00926.x
ER  -