Maple syrup urine disease: Mutation analysis in Turkish patients-Reference-Cited by-同舟云学术

Maple syrup urine disease: Mutation analysis in Turkish patients

Published:2002-05 Issue:2 Volume:25 Page:89-97
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Dursun A.¹²,Henneke M.³,Özgül K.⁴,Gartner J.³,Coşkun T.¹,Tokatli A.¹,Kalkanoğlu H. S.¹,Demirkol M.⁵,Wendel U.³,Özalp İ.¹

Affiliation:

1. ; Department of Pediatrics; Hacettepe University School of Medicine; Ankara Turkey

2. ; Department of Pediatrics, Metabolism and Nutrition, Unit; Hacettepe University School of Medicine; Ankara 06100 Turkey

3. ; Department of Pediatrics; Heinrich Heine University; Dusseldorf Germany

4. ; Child Health Institute TUBITAK DNA/Cell Bank and Gene Research Laboratory; Hacettepe University School of Medicine; Ankara

5. ; Department of Pediatrics; Istanbul University; Istanbul Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1015668425004/fullpdf

Reference25 articles.

1. Crystal structure of humanbra nched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease;Aevarsson;Structure,2000

2. Maple syrup urine disease; it has come along way;Chuang;J Pediatr,1998

3. Molecular cloning of the mature E1 β subunit of humanbr anched chain β-keto acid dehydrogenase complex;Chuang;FEBS Lett,1990

4. Maple syrup urine disease: the E1 beta gene of human branched-chain alpha-keto acid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the E1 beta mRNAs arises from intronic sequences;Chuang;Am J Hum Genet,1996

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