Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

Item
http://www.wikidata.org/entity/Q33677204
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomicsThe gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann diseaseCopy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesHistone deacetylase inhibitors as potential treatment for spinal muscular atrophyAbnormal fatty acid metabolism in childhood spinal muscular atrophySynergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophyBrain waves and brain wiring: the role of endogenous and sensory-driven neural activity in development.Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.High-resolution genetic and physical map of the Lgn1 interval in C57BL/6J implicates Naip2 or Naip5 in Legionella pneumophila pathogenesis.Molecular diagnosis of spinal muscular atrophy.Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.Molecular genetics of autosomal recessive spinal muscular atrophy.Molecular basis of genetic heterogeneity: role of the clinical neurologist.When is a deletion not a deletion? When it is converted.Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.Genetic findings of Cypriot spinal muscular atrophy patients.
P2860

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

Item
http://www.wikidata.org/entity/Q33677204
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
@ast
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
@en
type
label
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
@ast
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
@en
prefLabel
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
@ast
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932