UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
about
Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Dysferlin-deficient muscular dystrophy and innate immune activation.New developments in exon skipping and splice modulation therapies for neuromuscular diseases.Identification of splicing defects caused by mutations in the dysferlin gene.Progress and challenges in diagnosis of dysferlinopathy.Toward an objective measure of functional disability in dysferlinopathy.Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotidesGenetic and epigenetic determinants of low dysferlin expression in monocytes.
P2860
Q27325179-8183814A-3D68-4B67-83B5-C1B296A691C4Q35956430-2A9FD262-174C-4E51-B15A-B9DF8D1DC63DQ38092854-926C4370-D9CE-4E83-8767-C9A1AF59E9FAQ38195295-6930CD0D-354C-490E-AA69-A89524797829Q38422287-6596AF9C-5872-49BA-99E4-DF0D221F9D41Q38921880-199C5AFD-F391-44BE-8030-57F99878AEF2Q41031806-9EBE7960-5E75-4E4C-8F6E-A4B11D405B98Q41626249-221C6EAA-F76F-4AE9-BE34-1A23A1780661Q41877911-327E271C-0A7E-43D7-8F7B-45B9FB2958BBQ42429944-3A7056B3-884E-40AE-AA6A-55D2CEB6E59FQ50471072-AFA57F47-A630-4A84-A684-F9006CC8F392
P2860
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
UMD-DYSF, a novel locus specif ...... tations in the dysferlin gene.
@en
UMD-DYSF, a novel locus specif ...... tations in the dysferlin gene.
@nl
type
label
UMD-DYSF, a novel locus specif ...... tations in the dysferlin gene.
@en
UMD-DYSF, a novel locus specif ...... tations in the dysferlin gene.
@nl
prefLabel
UMD-DYSF, a novel locus specif ...... tations in the dysferlin gene.
@en
UMD-DYSF, a novel locus specif ...... tations in the dysferlin gene.
@nl
P2093
P2860
P50
P356
P1433
P1476
UMD-DYSF, a novel locus specif ...... tations in the dysferlin gene.
@en
P2093
Brad Williams
Dalil Hamroun
Gaelle Blandin
Jon Andoni Urtizberea
Karine Nguyen
Laura E Rufibach
Martin Krahn
Nicolas Wein
Nilah Monnier
Pierre Cau
P2860
P304
P356
10.1002/HUMU.22015
P577
2011-12-29T00:00:00Z