Standard
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations. / Scheller, Rasmus; Stein, Amelie; Nielsen, Sofie V.; Marin, Frederikke I.; Gerdes, Anne-Marie; Di Marco, Miriam; Papaleo, Elena; Lindorff-Larsen, Kresten; Hartmann-Petersen, Rasmus.
In:
Human Mutation, Vol. 40, No. 4, 2019, p. 444-457.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Scheller, R
, Stein, A, Nielsen, SV, Marin, FI
, Gerdes, A-M, Di Marco, M, Papaleo, E
, Lindorff-Larsen, K & Hartmann-Petersen, R 2019, '
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations',
Human Mutation, vol. 40, no. 4, pp. 444-457.
https://doi.org/10.1002/humu.23707APA
Scheller, R.
, Stein, A., Nielsen, S. V., Marin, F. I.
, Gerdes, A-M., Di Marco, M., Papaleo, E.
, Lindorff-Larsen, K., & Hartmann-Petersen, R. (2019).
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Human Mutation,
40(4), 444-457.
https://doi.org/10.1002/humu.23707Vancouver
Scheller R
, Stein A, Nielsen SV, Marin FI
, Gerdes A-M, Di Marco M et al.
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Human Mutation. 2019;40(4):444-457.
https://doi.org/10.1002/humu.23707Author
Scheller, Rasmus ; Stein, Amelie ; Nielsen, Sofie V. ; Marin, Frederikke I. ; Gerdes, Anne-Marie ; Di Marco, Miriam ; Papaleo, Elena ; Lindorff-Larsen, Kresten ; Hartmann-Petersen, Rasmus. / Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations. In: Human Mutation. 2019 ; Vol. 40, No. 4. pp. 444-457.
Bibtex
@article{b5acf46eb42f4781be7d70dd6feb48d7,
title = "Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations",
keywords = "genotype-phenotype, PAH, PKU, proteasome, protein degradation, protein stability, protein unfolding",
author = "Rasmus Scheller and Amelie Stein and Nielsen, {Sofie V.} and Marin, {Frederikke I.} and Anne-Marie Gerdes and {Di Marco}, Miriam and Elena Papaleo and Kresten Lindorff-Larsen and Rasmus Hartmann-Petersen",
year = "2019",
doi = "10.1002/humu.23707",
language = "English",
volume = "40",
pages = "444--457",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "JohnWiley & Sons, Inc.",
number = "4",
}
RIS
TY - JOUR
T1 - Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations
AU - Scheller, Rasmus
AU - Stein, Amelie
AU - Nielsen, Sofie V.
AU - Marin, Frederikke I.
AU - Gerdes, Anne-Marie
AU - Di Marco, Miriam
AU - Papaleo, Elena
AU - Lindorff-Larsen, Kresten
AU - Hartmann-Petersen, Rasmus
PY - 2019
Y1 - 2019
KW - genotype-phenotype
KW - PAH
KW - PKU
KW - proteasome
KW - protein degradation
KW - protein stability
KW - protein unfolding
U2 - 10.1002/humu.23707
DO - 10.1002/humu.23707
M3 - Journal article
C2 - 30648773
VL - 40
SP - 444
EP - 457
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 4
ER -
