A novel 110-bp insertion in a patient with homocysteinuria

Torun, Didem; İleri, Talia; Gündüz, Kaan; Akar, Nejat

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

Corresponding Author: Didem Torun, Türkiye
Manuscript Language: English

CITE

Full Text PDF Download citation RIS EndNote BibTex Medlars Procite Reference Manager Send email to author Similar articles PubMed Google Scholar