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Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
KEY WORDS: Acromesomelic dysplasia, Dwarfism, CDMP1, GDF5, Grebe syndrome, Pakistani subject.
Grebe syndrome has been shown to be caused by mutations in CDMP1 gene at chromosome 20q11.2.3-5 To date only four families with this condition have been reported from Pakistan.
BMP14 or CDMP1) has been shown to be a key factor to push primary hMSCs towards an intervertebral-disc-like phenotype [18,19], but it was also confirmed as a stimulating and a strong regenerative factor for disc cells in vitro  and in vivo in a rabbit IVD annulus stab degeneration model .
Thomas et al., "Mutations in CDMP1 cause autosomal dominant brachydactyly type C," Nature Genetics, vol.
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- CDN peering
- cDNA Amplification for Identification of Genomic Expressed Sequences