Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis
about
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosisSCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.Genetic architecture of reciprocal CNVs.Genetics of Congenital Heart Disease: Past and Present.Single nucleotide polymorphisms and domain/splice variants modulate assembly and elastomeric properties of human elastin. Implications for tissue specificity and durability of elastic tissue.Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome
P2860
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P2860
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Identification and characteriz ...... supravalvular aortic stenosis
@ast
Identification and characteriz ...... supravalvular aortic stenosis
@en
Identification and characteriz ...... supravalvular aortic stenosis
@nl
type
label
Identification and characteriz ...... supravalvular aortic stenosis
@ast
Identification and characteriz ...... supravalvular aortic stenosis
@en
Identification and characteriz ...... supravalvular aortic stenosis
@nl
prefLabel
Identification and characteriz ...... supravalvular aortic stenosis
@ast
Identification and characteriz ...... supravalvular aortic stenosis
@en
Identification and characteriz ...... supravalvular aortic stenosis
@nl
P2093
P2860
P356
P1476
Identification and characteriz ...... supravalvular aortic stenosis
@en
P2093
Bartolomeo Augello
Carmela Fusco
Claudia Izzi
Donatella Milani
Elisabetta Lapi
Giuseppe Merla
Leopoldo Zelante
Lucia Micale
Luis A Pérez Jurado
Maria Cristina Digilio
P2860
P2888
P304
P356
10.1038/EJHG.2009.181
P407
P577
2010-03-01T00:00:00Z
P5875
P6179
1008333945