“Whoa! It’s like Spotify but for academic articles.”

Instant Access to Thousands of Journals for just $40/month

Try 2 weeks free now

X ‐ Late Breaking Abstracts

FIRST OBSERVATION OF A RARE FRAMESHIFT MUTATION [CODONS 9/10 (+T)] IN THE b-GLOBIN GENE IN TURKEY X03 1 R Gunesacar, 2MM Celik 1Departments of Medical Biology and Genetics, Faculty of Medicine, Mustafa Kemal University, Antakya, Hatay, Turkey; 2Department of Internal Medicine, Faculty of Medicine, Mustafa Kemal University, Antakya, Hatay, Turkey MODULATOR EFFECTS OF THE METHYLENETETRAHYDROFOLATE REDUCTASE 677CfiT POLYMORPHISM ON B12 VITAMIN AND HOMOCYSTEINE METABOLISM Beta thalassemia is hereditary disorder which characterized by a genetic deficiency in the synthesis of b-globin production. The genetic defect usually results from missense or nonsense mutation in the b-globin gene. Heterozygous form of the disease is also known thalassemia trait is characterized by chronic course, and low-grade ineffective erythropoiesis. Here, we determined a very rare frameshift mutation [codons 9/10 (+T)] in a subject with beta thalassemia trait who applied to our laboratory for genetic investigation in the context of premarital screening program. Present report describes the first observation of this rare b-globin mutation in a 30-year-old male with Arab origin living in Hatay province of Turkey. ˘ N Sensoy, 2Y Soysal, 3A Kahraman, 4N Dogan, ¸ ˘ N _Imirzalıoglu 1Department of Family Medicine, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey; 2 Department http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Loading next page...

You’re reading a free preview. Subscribe to read the entire article.

DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy unlimited access and
personalized recommendations from
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $40/month

Try 2 weeks free now

Explore the DeepDyve Library

How DeepDyve Works

Spend time researching, not time worrying you’re buying articles that might not be useful.

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from Springer, Elsevier, Nature, IEEE, Wiley-Blackwell and more.

All the latest content is available, no embargo periods.

See the journals in your area

Simple and Affordable Pricing

14-day free trial. Cancel anytime, with a 30-day money-back guarantee.

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches


Best Deal — 25% off

Annual Plan

  • All the features of the Professional Plan, but for 25% off!
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.

billed annually