|
|
|
|
Bioquímica
|
|
...
-
High bone mineral density osteogenesis imperfecta due to
mutations affecting collagen maturation.
Two articles, published in 2011
and 2012, describe a new phenotype of osteogenesis
imperfecta found in two unrelated children and in two
siblings of a consanguineous family presenting with a
history of multiple recurrent bone fractures and manifesting
high bone mineral density. 2011 y 2012.
-
GROWTH IN OSTEOGENESIS IMPERFECTA. 2007. Horacio Plotkin
-
A novel Gly to
Arg substitution at position 388 of the a1 chain of type I
collagen in lethal form of osteogenesis imperfecta. Anna
Galicka, Slawomir Wolczynski, Ryszard Lesniewicz, Lech
Chyczewski and Andrzej Gindzienski. Enlace
al documento original. 2002
...
-
IDENTIFICATION OF NOVEL
COLlAI DEFECTS RESPONSIBLE FOR NULL ALLELE PHENOTYPES IN TYPE
I OI. Stefania Mirandola, Macarena Gómez Lira, Mónica
Mottes. Enlace
al documento original. 1999
...
-
DEFECTIVE TYPE I
PROCOLLAGEN MOLECULES ARE DEGRADED BY THE CYTOSOLIC
PROTEASOME. James M. Pace and Peter H. Byers. Enlace
al documento original. 1999
...
-
OSTEOBLAST METABOLISM OF
MUTANT TYPE I COLLAGEN: INTRACELLULAR SURVIVAL, SECRETION AND
INCORPORATION INTO MATRIX. Wayne A.Cabral, Antonella
Forlino and Joan C. Marini. Enlace
al documento original. 1999
...
-
THE ROLE INTRON SPLICE
ORDER IN THE COL1A2 GENE HAS ON THE EFFECTS OF SPLICE SITE
MUTATIONS RESULTING IN OI. Christine D. Kuslich and Peter
H. Byers. Enlace
al documento original. 1999
...
-
URINARY LEVELS OF
COLLAGEN DEGRADATION PRODUCTS SUGGEST THAT BONE RESORPTION IS
NORMAL IN CHILDREN WITH OSTEOGENESIS IMPERFECTA.
Ruud A. Bank, Johan M. TeKoppele, M.C. Kuijpers, Hans E.H.
Pruijs, Liesbeth J. Siderius, Ralph J.B. Sakkers. Enlace
al documento original. 1999
|
...
|
Correo electrónico: contacto@osteogenesis.info
|
|
|
