The gene for pycnodysostosis maps to human chromosome 1cen-q21
about
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosisCathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.Inherited diseases caused by mutations in cathepsin protease genes.The quest for new drugs to prevent osteoporosis-related fractures.What dwarfed Toulouse-Lautrec?
P2860
Q24538890-2A75B01E-B92B-4679-9FC0-5CE0827682BEQ33615956-1FC26A57-6296-4B32-AF08-962B1411A686Q34769776-1D9661E4-5D98-46CF-9363-FA3245014FCAQ35040136-865D6053-F35F-4995-8CB7-826A47B0C412Q37727245-80E307CF-D0EC-452D-A2E4-9FCFE55E9AF0Q38125619-2530A3BB-C7C0-496A-8758-2E28EBF50967Q39031727-22777F66-47DC-4208-9C22-5863F50D59A5Q39175749-DB29F74A-08E6-4FBD-AFFD-5445E27EA463Q48891372-F0728FE2-22CA-4DB0-AA9E-2F0677E95E9E
P2860
The gene for pycnodysostosis maps to human chromosome 1cen-q21
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@ast
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@en
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@nl
type
label
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@ast
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@en
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@nl
prefLabel
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@ast
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@en
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@nl
P2093
P2860
P356
P1433
P1476
The gene for pycnodysostosis maps to human chromosome 1cen-q21
@en
P2093
C A Francomano
J Rubenstein
M H Polymeropoulos
R I Ortiz De Luna
P2860
P2888
P356
10.1038/NG0695-238
P407
P577
1995-06-01T00:00:00Z