Dergiler / Turkish Journal of Hematology / 2011 / Cilt: 28 - Sayı: 4

A novel 110-bp insertion in a patient with homocysteinuria

Sayfa
354–356
DOI
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Bu Makaleye Atıf Yap

TORUN, D., İLERİ, T., GÜNDÜZ, K., AKAR, N. (2011). A novel 110-bp insertion in a patient with homocysteinuria. Turkish Journal of Hematology, Cilt: 28 - Sayı: 4, 354–356. https://ajindex.com/articles/412895

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Kaynakça (3)

  1. Kaur M, Kabra M, Das GP Suri M, Verma IC. Clinical and biochemical studies in homocystinuria. Indian Pediatr 1995;32:1067-75. Kraus JP Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Cystathionine Beta-Synthase Mutations In Homocystinuria. Hum Mutat 1999;13:362-75. [CrossRef] Münke M, Kraus JP Ohura T, Francke U. The gene for cystathionine beta synthase (CBS) maps to the subtelo- meric region on human chromosome 21q and to proxi- mal mouse chromosome 17. Am J Hum Genet 1988;42:550-9.
  2. Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ. High prevalence of a mutation in the cystathionine beta-Syn- thase gene. Am J Hum Genet 1996;59;1262-7.
  3. Akar N, Akar E, Mısırlıoğlu M, Avcu F, Yalçın A, Cin Ş. Search For Genetic Factors Favoring Thrombosis in Turkish Population. Thromb Res 1998;92;79-82. [CrossRef]