A novel mutation in theDIA1 gene in a patient with methemoglobinemia type II

American Journal of Medical Genetics, Part A - Tập 133A Số 1 - Trang 101-102 - 2005
Mustafa Deniz Yılmaz1, �zg�r �og ulu1, Ferda Özkınay1, Kaan Kavaklı1, Dirk Roos2
1Department of Pediatrics, Faculty of Medicine, Ege University, İzmir, Turkey
2Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

Tóm tắt

Từ khóa


Tài liệu tham khảo

Aalfs, 2000, Hum Mutat, 16, 18, 10.1002/1098-1004(200007)16:1<18::AID-HUMU4>3.0.CO;2-N

Dekker, 2001, Blood, 97, 1106, 10.1182/blood.V97.4.1106

Kobayashi, 1990, Blood, 75, 1408, 10.1182/blood.V75.7.1408.1408

Kugler, 2001, Hum Mutat, 17, 348, 10.1002/humu.31

Manabe, 1996, Blood, 88, 3208, 10.1182/blood.V88.8.3208.bloodjournal8883208

Nagai, 1993, Blood, 81, 808, 10.1182/blood.V81.3.808.bloodjournal813808

Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. 2000. MIM Number: {250800}; {12/16/2003}. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/

Owen, 1997, J Inherit Metab Dis, 20, 610, 10.1023/A:1005379730729

Shirabe, 1994, J Biol Chem, 269, 5952, 10.1016/S0021-9258(17)37554-3

Shirabe, 1995, Am J Hum Genet, 57, 302

Vieira, 1995, Blood, 85, 2254, 10.1182/blood.V85.8.2254.bloodjournal8582254