home genetic news bioinformatics biotechnology literature journals ethics positions events sitemap

UBBFriend: Email This Page to Someone!
  DIAGnostics - Clinical Research (professional requests)
  Ehlers-Danlos syndrome, progeroid form (OMIM 130070)

Post New Topic  Post A Reply
profile | register | preferences | faq | search

next newest topic | next oldest topic
Author Topic:   Ehlers-Danlos syndrome, progeroid form (OMIM 130070)
posted 02-10-2000 02:04 PM           Edit/Delete Message Reply w/Quote
Dear Colleagues,
I have a family with a 4-year-old boy with Ehlers-Danlos syndrome, progeroid form (OMIM 130070). The gene map locus for this disease is located at 5q35.1-q35.3. Okajima et al of Nagoya University School of Medicine, Japan, searched for mutations in the patient originally published by Kresse et al in 1987 and they managed to shed some light on the molecular basis for this rare genetic entity (see recently paper published in J. Biol. Chem 1999, Oct 8, 274 (41): 28841-4.

Our family is available for DNA studies. We are looking for anyone interested in joining a collaborative research project of this family.

Gerson Carakushansky, M.D., Ph. D.
Chief Genetic Unit
Pediatric Institute
Federal University of Rio de Janeiro (UFRJ)



All times are ET (US)

next newest topic | next oldest topic

Administrative Options: Close Topic | Archive/Move | Delete Topic
Post New Topic  Post A Reply
Hop to:

Contact Us | HUM-MOLGEN

Copyright by HUM-MOLGEN 1995-2017

Powered by: Ultimate Bulletin Board, Version 5.44a
© Infopop Corporation (formerly Madrona Park, Inc.), 1998 - 2000.

By posting requests at HUM-MOLGEN you reach more than 9.500 mailing list subscribers and a 6 digit number of www users. Therefore post high quality messages only, including full name and institutional address.