Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

Item
http://www.wikidata.org/entity/Q28256705
The molecular genetics of Marfan syndrome and related microfibrillopathiesA case of Weill-Marchesani syndrome with inversion of chromosome 15.Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.The clinical spectrum of complete FBN1 allele deletions.Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.Novel insights into the function and dynamics of extracellular matrix in liver fibrosis.Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentisSkeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cellsExtracellular matrix remodeling: the common denominator in connective tissue diseases. Possibilities for evaluation and current understanding of the matrix as more than a passive architecture, but a key player in tissue failure.Echocardiographic findings in children with Marfan syndrome.Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child.Shprintzen-Goldberg syndrome: a rare disorder.Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.Molecular mechanisms of inherited thoracic aortic disease - from gene variant to surgical aneurysm.Biometric and structural ocular manifestations of Marfan syndrome.
P2860

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

Item
http://www.wikidata.org/entity/Q28256705
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@ast
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@en
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@nl
type
label
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@ast
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@en
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@nl
prefLabel
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@ast
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@en
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@nl
P1433
P1476
P2093
P304
P31
P3181
P356
P407
P433
P478
P577
P698
P3181
P356
P1433
P1476
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
@en
P2093
P304
P31
P3181
P356
10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.3.CO;2-2
P407
P433
P478
P577
P698