Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
about
Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS dataRett syndrome and the MECP2 geneFrom genes to environment: using integrative genomics to build a "systems-level" understanding of autism spectrum disordersMethyl CpG binding proteins: coupling chromatin architecture to gene regulation.Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in malesDiagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.The expanding genomic landscape of autism: discovering the 'forest' beyond the 'trees'Trisomy 21 and Rett syndrome: a double burden.Balanced X chromosome inactivation patterns in the Rett syndrome brain.RettBASE: Rett syndrome database update.
P2860
Q21135474-FEF3112B-3B45-454A-BE29-70C16B7AFACCQ24680354-1ED5E63B-B485-4BA1-8309-B1052106C117Q26825821-E2AF0C1C-2AE7-4506-92DF-9D19DDC493F3Q30654814-0529B284-30D1-4F0C-ABEF-BC4EC7FA68B3Q34141668-43598130-6E20-40C1-A2B8-EFF11EF477A1Q34144191-13A9A83A-0434-48AB-B32B-E25C60DD0A5BQ34144292-63DBE107-2344-4B6B-8FD4-964B3D3A737FQ34733527-43FD7FD5-833C-4C70-A808-D22D4B133A81Q36799924-45196B64-1722-474E-A765-5534F00B1F8CQ47261381-89EFD31B-8774-4E93-9D05-2DB2BE1609B1Q48494390-1E223A56-F8A0-438E-8951-209E41D4472FQ53752724-1953B781-B09E-4BCC-AFFF-EE557F40F787
P2860
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
@en
type
label
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
@en
prefLabel
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
@en
P1433
P1476
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
@en
P2093
P304
P356
10.1002/(SICI)1098-1004(200004)15:4<382::AID-HUMU16>3.0.CO;2-8
P50
P577
2000-04-01T00:00:00Z