Publications:

The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

Human Genomics

Zhang, Chuan C; Zhang, Pei P; Yan, Yousheng Y; Zhou, Bingbo B; Wang, Yupei Y; Tian, Xinyuan X; Hao, Shengju S; Ma, Panpan P; Zheng, Lei L; Zhang, Qinghua Q; Hui, Ling L; Wang, Yan Y; Cao, Zongfu Z; Ma, Xu X

Publication Date: 2023-04-25

Variant appearance in text: MHP: 194T>A

PubMed Link: 37098607

Variant Present in the following documents:

• 40246_2023_Article_475.pdf

View BVdb publication page

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: MHP: I65N

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

View BVdb publication page