Literature DB >> 21739577

Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.

Linda C Walker1, Elizabeth M Ju, Heather N Yeowell.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2011        PMID: 21739577      PMCID: PMC3140580          DOI: 10.1002/ajmg.a.34064

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  18 in total

1.  The human genome browser at UCSC.

Authors:  W James Kent; Charles W Sugnet; Terrence S Furey; Krishna M Roskin; Tom H Pringle; Alan M Zahler; David Haussler
Journal:  Genome Res       Date:  2002-06       Impact factor: 9.043

2.  Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3)

Authors:  M Valtavaara; C Szpirer; J Szpirer; R Myllylä
Journal:  J Biol Chem       Date:  1998-05-22       Impact factor: 5.157

3.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

Authors:  P Beighton; A De Paepe; B Steinmann; P Tsipouras; R J Wenstrup
Journal:  Am J Med Genet       Date:  1998-04-28

4.  Serum stimulation of lysyl hydroxylase activity in cultured human skin fibroblasts.

Authors:  S Murad; A Sivarajah; S R Pinnell
Journal:  Connect Tissue Res       Date:  1985       Impact factor: 3.417

Review 5.  The Ehlers-Danlos syndromes.

Authors:  H N Yeowell; S R Pinnell
Journal:  Semin Dermatol       Date:  1993-09

6.  Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle.

Authors:  M Valtavaara; H Papponen; A M Pirttilä; K Hiltunen; H Helander; R Myllylä
Journal:  J Biol Chem       Date:  1997-03-14       Impact factor: 5.157

7.  Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Authors:  Fransiska Malfait; Delfien Syx; Philip Vlummens; Sofie Symoens; Sheela Nampoothiri; Trinh Hermanns-Lê; Lut Van Laer; Anne De Paepe
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

Review 8.  Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

Authors:  H N Yeowell; L C Walker
Journal:  Mol Genet Metab       Date:  2000 Sep-Oct       Impact factor: 4.797

9.  Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene.

Authors:  H N Yeowell; L C Walker
Journal:  Matrix Biol       Date:  1999-04       Impact factor: 11.583

10.  Cloning and characterization of a third human lysyl hydroxylase isoform.

Authors:  K Passoja; K Rautavuoma; L Ala-Kokko; T Kosonen; K I Kivirikko
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-01       Impact factor: 11.205

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.