Author:
Foroozani Hannaneh,Abiri Maryam,Salehpour Shadab,Bagherian Hamideh,Sharifi Zohreh,Alaei Mohammad Reza,Khatami Shohreh,Azadmeh Sara,Setoodeh Aria,Rejali Leyli,Rohani Farzaneh,Zeinali Sirous
Publisher
Springer Berlin Heidelberg
Reference17 articles.
1. Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249
2. Blau N, Thony B, Cotton RG (2001) Disorders of tetrahydrobiopterin and related biogeninc amines. In: Scriver CR, Beaudet A, Sly WS, Valle D, Childs B, Vogelstein B (eds) The metabolic and molecular bases of inherited disease. McGraw Hill, New York, pp 1275–1776
3. Blau N, Bonafe L, Blaskovics M (2005) Disorders of phenylalanine and tetrahydrobiopterin metabolism. In: Blau N, Duran M, Blaskovics M, Gibson K (eds) Physician’s guide to the laboratory diagnosis of metabolic disease. Chapman & Hall, London, pp 89–106
4. Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U (2011) Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab 104:S2–S9
5. Dianzani I, Howells DW, Ponzone A, Saleeba JA, Smooker PM, Cotton RG (1993) Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. J Med Genet 30:465–469
Cited by
8 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献