Publications:

Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

Proteins

Shi, Zhen Z; Sellers, Jenn J; Moult, John J

Publication Date: 2012-01

Variant appearance in text: PAH: D59Y

PubMed Link: 21953985

Variant Present in the following documents:

• Main text

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: PAH: D59Y

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

View BVdb publication page