PAHdb 2003: What a locus-specific knowledgebase can do-Reference-Cited by-同舟云学术

PAHdb 2003: What a locus-specific knowledgebase can do

Published:2003-03-19 Issue:4 Volume:21 Page:333-344
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Scriver Charles R.,Hurtubise M�lanie,Konecki David,Phommarinh Manyphong,Prevost Lynne,Erlandsen Heidi,Stevens Ray,Waters Paula J.,Ryan Shannon,McDonald David,Sarkissian Christineh

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference78 articles.

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2. High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin

3. Crystal Structure of the Ternary Complex of the Catalytic Domain of Human Phenylalanine Hydroxylase with Tetrahydrobiopterin and 3-(2-Thienyl)-l-alanine, and its Implications for the Mechanism of Catalysis and Substrate Activation

4. 2001. The nature and mechanisms of human gene mutation. In: editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp 343-377.

5. Mutational spectrum in German patients with phenylalanine hydroxylase deficiency

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