An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.
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The molecular genetics of Marfan syndrome and related disordersThe molecular genetics of Marfan syndrome and related microfibrillopathiesMutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesA mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.Marfan Database (third edition): new mutations and new routines for the software.Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsLatent TGF-beta binding proteins: extracellular matrix association and roles in TGF-beta activation.Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1Software and database for the analysis of mutations in the human FBN1 gene.Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.
P2860
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P2860
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@ast
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@en
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@nl
type
label
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@ast
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@en
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@nl
prefLabel
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@ast
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@en
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@nl
P2093
P2860
P356
P1476
An extra cysteine in one of th ...... el variant of Marfan syndrome.
@en
P2093
C Ståhl-Hallengren
K Kainulainen
K Tornqvist
L Peltonen
U Kristofersson
P2860
P304
P356
10.1172/JCI117389
P407
P577
1994-08-01T00:00:00Z