Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Item
http://www.wikidata.org/entity/Q37325957
A trans-acting protein effect causes severe eye malformation in the Mp mouseNeonatal Marfan syndrome: a successful early multidisciplinary approachC596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.New Genetic Insights into Congenital Heart Disease.Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal DomainDYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach.Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.The new Ghent criteria for Marfan syndrome: what do they change?Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathyNovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
P2860

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Item
http://www.wikidata.org/entity/Q37325957
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Clinical and mutation-type ana ...... enic FBN1 exons 24-32 mutation
@en
Clinical and mutation-type ana ...... nic FBN1 exons 24-32 mutation.
@nl
type
label
Clinical and mutation-type ana ...... enic FBN1 exons 24-32 mutation
@en
Clinical and mutation-type ana ...... nic FBN1 exons 24-32 mutation.
@nl
prefLabel
Clinical and mutation-type ana ...... enic FBN1 exons 24-32 mutation
@en
Clinical and mutation-type ana ...... nic FBN1 exons 24-32 mutation.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Clinical and mutation-type ana ...... enic FBN1 exons 24-32 mutation
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932