Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis
about
Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.
P2860
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Novel Compound Heterozygous Mu ...... Siblings with Pyknodysostosis
@ast
Novel Compound Heterozygous Mu ...... Siblings with Pyknodysostosis
@en
type
label
Novel Compound Heterozygous Mu ...... Siblings with Pyknodysostosis
@ast
Novel Compound Heterozygous Mu ...... Siblings with Pyknodysostosis
@en
prefLabel
Novel Compound Heterozygous Mu ...... Siblings with Pyknodysostosis
@ast
Novel Compound Heterozygous Mu ...... Siblings with Pyknodysostosis
@en
P2093
P2860
P356
P1476
Novel Compound Heterozygous Mu ...... Siblings with Pyknodysostosis
@en
P2093
M Matsushita
N Ishiguro
P2860
P304
P356
10.1159/000336581
P577
2012-03-06T00:00:00Z