Journal Mobile Options
Table of Contents
Vol. 214, No. 1, 2007
Issue release date: December 2006
Section title: Clinical and Laboratory Investigations
Dermatology 2007;214:15–20
(DOI:10.1159/000096907)

C-kit Asp-816-Val Mutation Analysis in Patients with Mastocytosis

Verzijl A. · Heide R. · Oranje A.P. · van Schaik R.H.N.
Departments of aDermato-Venereology and bClinical Chemistry, Erasmus MC, Rotterdam, The Netherlands

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Automatic perpetual access to all articles of the subscribed year(s)
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Clinical and Laboratory Investigations

Received: 11/21/2005
Accepted: 4/28/2006
Published online: 12/22/2006

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 4

ISSN: 1018-8665 (Print)
eISSN: 1421-9832 (Online)

For additional information: http://www.karger.com/DRM

Abstract

Background:Mastocytosis is a heterogeneous group of disorders characterized by abnormal accumulation of mast cells. Objective: Skin biopsies from 24 patients (23 with proven mastocytosis) were screened for the presence of the c-kit Asp-816-Val mutation. Methods: In frozen biopsies, RNA was isolated, cDNA synthesis and PCR, the expected PCR product of 346 bp was obtained from 23 patients. Results:In patients with urticaria pigmentosa, the mutation was detected in 38% of the adults and 25% of the children. With regard to the clinical presentation of the disease, no difference was found between adult patients with and without the mutation, as detected with our assay. One out of the 2 children with the mutation had an atypical presentation of the disease. Conclusion: the mutation could not be detected in all the patients, probably due to lack of sensitivity of the methods.


  

Author Contacts

Prof. Dr. Arnold P. Oranje
Department of Dermatology
PO Box 2060
NL–3000 CB Rotterdam (The Netherlands)
Tel. +31 10 463 6653, Fax +31 10 202 1274, E-Mail arnold.p.oranje@inter.nl.net

  

Article Information

Received: November 21, 2005
Accepted: April 28, 2006
Number of Print Pages : 6
Number of Figures : 2, Number of Tables : 4, Number of References : 16

  

Publication Details

Dermatology

Vol. 214, No. 1, Year 2007 (Cover Date: December 2006)

Journal Editor: Saurat, J.-H. (Geneva)
ISSN: 1018–8665 (print), 1421–9832 (Online)

For additional information: http://www.karger.com/DRM


Article / Publication Details

First-Page Preview
Abstract of Clinical and Laboratory Investigations

Received: 11/21/2005
Accepted: 4/28/2006
Published online: 12/22/2006

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 4

ISSN: 1018-8665 (Print)
eISSN: 1421-9832 (Online)

For additional information: http://www.karger.com/DRM


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.