Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.

Faiyaz-Ul-Haque, Muhammad

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5. [electronic resource] - Journal of bone and mineral metabolism 2008 - 648-52 p. digital

Publication Type: Case Reports; Journal Article

0914-8779

10.1007/s00774-008-0853-5 doi


Amino Acid Sequence
Animals
Child
Child, Preschool
Cysteine--genetics
DNA Mutational Analysis
Female
Growth Differentiation Factor 5--genetics
Humans
Male
Molecular Sequence Data
Musculoskeletal Abnormalities
Mutation, Missense
Osteochondrodysplasias--genetics
Pedigree
Sequence Alignment