A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
about
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formationType V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.IFITM5 mutations and osteogenesis imperfecta.The osteogenic cell surface marker BRIL/IFITM5 is dispensable for bone development and homeostasis in mice.Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation.
P2860
Q26824200-4673E323-F034-4B67-A659-F90F3573D4FBQ35055113-A7A59A00-DEC1-40E1-9EE4-96B58BCB6F83Q36325726-86DFF69C-FEBE-43DA-BF16-EA321C5C7A5DQ38511204-B00EC22A-A1F5-48A9-96BA-40C92601AC97Q41569088-03C815F7-08BA-47CE-9504-BC7F948E0E8CQ50164228-FDA13DA9-5C8B-4E42-B99D-6C0D5BC162C3Q50172805-5E1C06CE-8B3A-4F4C-A411-775D057FDAA9
P2860
A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
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2014年论文
@zh-cn
name
A nonclassical IFITM5 mutation ...... mperfecta with prenatal onset.
@en
A nonclassical IFITM5 mutation ...... mperfecta with prenatal onset.
@nl
type
label
A nonclassical IFITM5 mutation ...... mperfecta with prenatal onset.
@en
A nonclassical IFITM5 mutation ...... mperfecta with prenatal onset.
@nl
prefLabel
A nonclassical IFITM5 mutation ...... mperfecta with prenatal onset.
@en
A nonclassical IFITM5 mutation ...... mperfecta with prenatal onset.
@nl
P2093
P2860
P356
P1476
A nonclassical IFITM5 mutation ...... imperfecta with prenatal onset
@en
P2093
Bernd Wollnik
Christian Netzer
Eckhard Schoenau
Heike Hoyer-Kuhn
Jutta Becker
Katharina Zimmermann
Lutz Garbes
P2860
P304
P356
10.1002/JBMR.2156
P577
2014-06-01T00:00:00Z