Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
about
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.Clinical and Genetic Characterization of Female DystrophinopathySex differences in cardiomyopathies.De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.X-chromosome inactivation in female patients with Fabry disease.Cardiac involvement in female carriers of duchenne or becker muscular dystrophy.Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
P2860
Q34639835-570EB1CF-701F-4041-942A-16E0068EA017Q35866121-B3269ADB-D5F5-4E69-8DF5-4431970522EEQ38182007-0BECC530-EED5-43FE-9A67-B9FA43B8468BQ38305691-528B9F4A-4A31-41E2-81F8-8BFABCEA516EQ38813192-D46F77A0-0CEF-4DC1-A284-C6F45CAAEED7Q38896000-C7A9F2FA-080E-4BBE-AF12-E117FC161A5BQ42004244-D4C52F70-CC39-42F3-AB37-903569DE34CDQ51024877-C5CABB58-5B4C-4BCC-AEA0-62EB8F262609Q51373804-40364999-CFC5-44FF-8EE3-E2C6F8EA0612Q53723983-F53E5F4D-4DCC-498E-9693-D82F2FC7C84F
P2860
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Prognostic value of X-chromoso ...... e carriers of dystrophinopathy
@ast
Prognostic value of X-chromoso ...... e carriers of dystrophinopathy
@en
type
label
Prognostic value of X-chromoso ...... e carriers of dystrophinopathy
@ast
Prognostic value of X-chromoso ...... e carriers of dystrophinopathy
@en
prefLabel
Prognostic value of X-chromoso ...... e carriers of dystrophinopathy
@ast
Prognostic value of X-chromoso ...... e carriers of dystrophinopathy
@en
P2093
P2860
P50
P356
P1476
Prognostic value of X-chromoso ...... e carriers of dystrophinopathy
@en
P2093
Andrés Nascimento
Aurelio Hernández-Lain
Cristina Jou
Francina Munell
Jaume Colomer
Jonàs Juan-Mateu
Jordi Pascual
Lidia González-Quereda
Manuel Roig-Quilis
Marcos Madruga
P2860
P2888
P356
10.1186/1750-1172-7-82
P50
P577
2012-10-23T00:00:00Z
P5875
P6179
1008457500