Literature DB >> 8071963

A new missense mutation of fibrillin in a patient with Marfan syndrome.

D R Hewett1, J R Lynch, A Child, B C Sykes.   

Abstract

A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein.

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Year:  1994        PMID： 8071963      PMCID： PMC1049811          DOI： 10.1136/jmg.31.4.338

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  17 in total

Review 1.  The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

Authors:  H H Hobbs; D W Russell; M S Brown; J L Goldstein
Journal:  Annu Rev Genet       Date:  1990       Impact factor: 16.830

Review 2.  Protein modules.

Authors:  M Baron; D G Norman; I D Campbell
Journal:  Trends Biochem Sci       Date:  1991-01       Impact factor: 13.807

3.  Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1992-05-11       Impact factor: 16.971

4.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Authors:  H C Dietz; G R Cutting; R E Pyeritz; C L Maslen; L Y Sakai; G M Corson; E G Puffenberger; A Hamosh; E J Nanthakumar; S M Curristin
Journal:  Nature       Date:  1991-07-25       Impact factor: 49.962

5.  Partial sequence of a candidate gene for the Marfan syndrome.

Authors:  C L Maslen; G M Corson; B K Maddox; R W Glanville; L Y Sakai
Journal:  Nature       Date:  1991-07-25       Impact factor: 49.962

Review 6.  Structure-function relationships of epidermal growth factor modules in vitamin K-dependent clotting factors.

Authors:  J Stenflo
Journal:  Blood       Date:  1991-10-01       Impact factor: 22.113

7.  Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.

Authors:  H C Dietz; J M Saraiva; R E Pyeritz; G R Cutting; C A Francomano
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

8.  Marfan gene dissected.

Authors:  B Sykes
Journal:  Nat Genet       Date:  1993-02       Impact factor: 38.330

9.  Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Authors:  H C Dietz; R E Pyeritz; E G Puffenberger; R J Kendzior; G M Corson; C L Maslen; L Y Sakai; C A Francomano; G R Cutting
Journal:  J Clin Invest       Date:  1992-05       Impact factor: 14.808

Review 10.  Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

Authors:  H H Hobbs; M S Brown; J L Goldstein
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878
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  15 in total

1.  Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

Authors:  M Wang; C L Clericuzio; M Godfrey
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

2.  Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Authors:  G Collod-Béroud; C Béroud; L Adès; C Black; M Boxer; D J Brock; M Godfrey; C Hayward; L Karttunen; D Milewicz; L Peltonen; R I Richards; M Wang; C Junien; C Boileau
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

3.  Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.

Authors:  T Rantamäki; I Kaitila; A C Syvänen; M Lukka; L Peltonen
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

4.  Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Authors:  M Wang; P Kishnani; M Decker-Phillips; S G Kahler; Y T Chen; M Godfrey
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

5.  The origins of the Polynesians: an interpretation from mitochondrial lineage analysis.

Authors:  B Sykes; A Leiboff; J Low-Beer; S Tetzner; M Richards
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

6.  Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

Authors:  I Schrijver; W Liu; T Brenn; H Furthmayr; U Francke
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

7.  Marfan Database (third edition): new mutations and new routines for the software.

Authors:  G Collod-Béroud; C Béroud; L Ades; C Black; M Boxer; D J Brock; K J Holman; A de Paepe; U Francke; U Grau; C Hayward; H G Klein; W Liu; L Nuytinck; L Peltonen; A B Alvarez Perez; T Rantamäki; C Junien; C Boileau
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

8.  Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Authors:  G Nijbroek; S Sood; I McIntosh; C A Francomano; E Bull; L Pereira; F Ramirez; R E Pyeritz; H C Dietz
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

9.  Software and database for the analysis of mutations in the human FBN1 gene.

Authors:  G Collod; C Béroud; T Soussi; C Junien; C Boileau
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

10.  Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.

Authors:  D Hewett; J Lynch; A Child; H Firth; B Sykes
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025
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