PAH c.86G>C ;(p.C29S)

Variant ID: 12-103306651-C-G

NM_000277.1(PAH):c.86G>C;(p.C29S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Unravelling the Complex Denaturant and Thermal-Induced Unfolding Equilibria of Human Phenylalanine Hydroxylase.

International Journal Of Molecular Sciences
Conde-Giménez, María M; Sancho, Javier J
Publication Date: 2021-06-18

Variant appearance in text: PAH: C29S
PubMed Link: 34207146
Variant Present in the following documents:
  • Main text
  • ijms-22-06539.pdf
View BVdb publication page



Author Correction: Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability.

Scientific Reports
Tomé, Catarina S CS; Lopes, Raquel R RR; Sousa, Pedro M F PMF; Amaro, Mariana P MP; Leandro, João J; Mertens, Haydyn D T HDT; Leandro, Paula P; Vicente, João B JB
Publication Date: 2019-11-20

Variant appearance in text: PAH: C29S
PubMed Link: 31745241
Variant Present in the following documents:
  • 41598_2019_Article_54425.pdf
View BVdb publication page



Biophysical characterization of full-length human phenylalanine hydroxylase provides a deeper understanding of its quaternary structure equilibrium.

The Journal Of Biological Chemistry
Arturo, Emilia C EC; Gupta, Kushol K; Hansen, Michael R MR; Borne, Elias E; Jaffe, Eileen K EK
Publication Date: 2019-06-28

Variant appearance in text: PAH: C29S
PubMed Link: 31076506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Journal Of Inherited Metabolic Disease
Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V
Publication Date: 2011-02

Variant appearance in text: PAH: C29S
PubMed Link: 20821054
Variant Present in the following documents:
  • 10545_2011_Article_9371.pdf
View BVdb publication page