Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
about
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.The role of cathepsin K in oral and maxillofacial disorders.Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences.Current research on pycnodysostosis.Clinical and radiographic features of pycnodysostosis: A case report.Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.
P2860
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P2860
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Exome sequencing identifies CT ...... as intermediate osteopetrosis.
@en
Exome sequencing identifies CT ...... as intermediate osteopetrosis.
@nl
type
label
Exome sequencing identifies CT ...... as intermediate osteopetrosis.
@en
Exome sequencing identifies CT ...... as intermediate osteopetrosis.
@nl
prefLabel
Exome sequencing identifies CT ...... as intermediate osteopetrosis.
@en
Exome sequencing identifies CT ...... as intermediate osteopetrosis.
@nl
P2093
P2860
P50
P1433
P1476
Exome sequencing identifies CT ...... as intermediate osteopetrosis
@en
P2093
Alessandra Pangrazio
Andrea Superti-Furga
Ashok Vellodi
Blanca Gener
Cristina Sobacchi
Isabel Llano-Rivas
Jamal Raza
Luca Zammataro
Manuela Oppo
P2860
P304
P356
10.1016/J.BONE.2013.11.014
P577
2013-11-20T00:00:00Z