Carregant...
Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.
An infant who died of complications of osteogenesis imperfecta (OI) at 22 days of age had a 46,XY,inv(7)(p13q22) karyotype. His mother carried the same inversion. One breakpoint of the inversion was within the region of the gene for alpha 2(I) procollagen. The product of this gene is a component of...
Guardat en:
| Autors principals: | , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
1988
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1050466/ https://ncbi.nlm.nih.gov/pubmed/3385745 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|