๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1) parallels the age-dependent phenotype of human osteogenesis imperfecta

โœ Scribed by Ruth F. Pereira; Eric L. Hume; Kenneth W. Halford; Darwin J. Prockop

Book ID
112119574
Publisher
American Society for Bone and Mineral Research
Year
2009
Tongue
English
Weight
524 KB
Volume
10
Category
Article
ISSN
0884-0431

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Recurrence of lethal osteogenesis imperf
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease
โœ Matthew J. Edwards; Richard J. Wenstrup; Peter H. Byers; Daniel H. Cohn ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 657 KB

We have determined that a man, ascertained because he fathered a child with lethal osteogenesis imperfecta (01) with each of two partners, is mosaic in both his germline and somatic tissues for a mutation in the COLlA2 gene which encodes the proa2(I) chain of type I procollagen. His dermal fibroblas