As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.
about
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy.Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
P2860
As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
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
name
As little as needed: the extra ...... c mutation in the TCIRG1 gene.
@ast
As little as needed: the extra ...... c mutation in the TCIRG1 gene.
@en
As little as needed: the extra ...... c mutation in the TCIRG1 gene.
@nl
type
label
As little as needed: the extra ...... c mutation in the TCIRG1 gene.
@ast
As little as needed: the extra ...... c mutation in the TCIRG1 gene.
@en
As little as needed: the extra ...... c mutation in the TCIRG1 gene.
@nl
prefLabel
As little as needed: the extra ...... c mutation in the TCIRG1 gene.
@ast
As little as needed: the extra ...... c mutation in the TCIRG1 gene.
@en
As little as needed: the extra ...... c mutation in the TCIRG1 gene.
@nl
P2093
P2860
P356
P1476
As little as needed: the extra ...... ic mutation in the TCIRG1 gene
@en
P2093
Alessandra Pangrazio
Antonio González-Meneses Lopez
Cristina Sobacchi
Diego Pascual-Vaca Gomez
Maria Elena Caldana
Paolo Vezzoni
P2860
P304
P356
10.1002/JBMR.2203
P577
2014-07-01T00:00:00Z