ISSN: 1300-7777 E-ISSN: 1308-5263
A novel 110-bp insertion in a patient with homocysteinuria [Turk J Hematol]
Turk J Hematol. 2011; 28(4): 354-356 | DOI: 10.5152/tjh.2011.44  

A novel 110-bp insertion in a patient with homocysteinuria

Didem Torun1, Talia İleri2, Kaan Gündüz3, Nejat Akar1
1Department Of Pediatric Genetics, Faculty Of Medicine, Ankara University, Ankara, Turkey
2Department Of Pediatric Hematology, Faculty Of Medicine, Ankara University, Ankara, Turkey
3Department Of Ophthalmology, Faculty Of Medicine, Ankara University, Ankara, Turkey

Keywords: Homocystinuria, CBS, Ocular symptoms


Homosistinürili bir hastada ilk kez tanımlanan 110 BÇ'lik insersiyon

Didem Torun1, Talia İleri2, Kaan Gündüz3, Nejat Akar1
1Ankara Üniversitesi Tıp Fakültesi Pediatrik Moleküler Genetik Bilim Dalı, Ankara
2Ankara Üniversitesi Tıp Fakültesi Pediatrik Hematoloji Bilim Dalı, Ankara
3Ankara Üniversitesi Tıp Fakültesi Göz Hastalıkları Anabilim Dalı, Ankara

Anahtar Kelimeler: Homosistinüri, CBS, Oküler Semptomlar


Didem Torun, Talia İleri, Kaan Gündüz, Nejat Akar. A novel 110-bp insertion in a patient with homocysteinuria. Turk J Hematol. 2011; 28(4): 354-356

Corresponding Author: Didem Torun, Türkiye


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