A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

Inger-Lise Mero; Juan Manuel Orozco Rodriguez; Kathrine Bjørgo; Renee Alexandra Hankin; Ewa Krupinska; Mari Ann Kulseth; Marvin Anthony Rossow; Wolfgang Knecht

doi:10.1016/j.heliyon.2024.e38659

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

Inger-Lise Mero, Juan Manuel Orozco Rodriguez, Kathrine Bjørgo, Renee Alexandra Hankin, Ewa Krupinska, Mari Ann Kulseth, Marvin Anthony Rossow, Wolfgang Knecht

Molekylär biovetenskap

Oslo University Hospital

Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

Originalspråk	engelska
Artikelnummer	e38659
Tidskrift	Heliyon
Volym	10
Nummer	19
DOI	https://doi.org/10.1016/j.heliyon.2024.e38659
Status	Published - 2024 sep. 1

Ämnesklassifikation (UKÄ)

Biologi
Biofysik

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10.1016/j.heliyon.2024.e38659Licens: CC BY-NC-ND

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Lund Protein Production Platform and Lund University Node of Protein Production Sweden
Knecht, W. (Manager)
Biologiska institutionen
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Mero, I.-L., Orozco Rodriguez, J. M., Bjørgo, K., Hankin, R. A., Krupinska, E., Kulseth, M. A., Rossow, M. A., & Knecht, W. (2024). A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase. Heliyon, 10(19), Artikel e38659. https://doi.org/10.1016/j.heliyon.2024.e38659

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title = "A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase",

author = "Inger-Lise Mero and \{Orozco Rodriguez\}, \{Juan Manuel\} and Kathrine Bj{\o}rgo and Hankin, \{Renee Alexandra\} and Ewa Krupinska and Kulseth, \{Mari Ann\} and Rossow, \{Marvin Anthony\} and Wolfgang Knecht",

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doi = "10.1016/j.heliyon.2024.e38659",

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A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase. / Mero, Inger-Lise; Orozco Rodriguez, Juan Manuel; Bjørgo, Kathrine et al.
I: Heliyon, Vol. 10, Nr. 19, e38659, 01.09.2024.

Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

TY - JOUR

T1 - A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

AU - Mero, Inger-Lise

AU - Orozco Rodriguez, Juan Manuel

AU - Bjørgo, Kathrine

AU - Hankin, Renee Alexandra

AU - Krupinska, Ewa

AU - Kulseth, Mari Ann

AU - Rossow, Marvin Anthony

AU - Knecht, Wolfgang

PY - 2024/9/1

Y1 - 2024/9/1

UR - https://www.scopus.com/pages/publications/85205387587

U2 - 10.1016/j.heliyon.2024.e38659

DO - 10.1016/j.heliyon.2024.e38659

M3 - Article

C2 - 39430512

SN - 2405-8440

VL - 10

JO - Heliyon

JF - Heliyon

IS - 19

M1 - e38659

ER -

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

Ämnesklassifikation (UKÄ)

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Utrustning

Lund Protein Production Platform and Lund University Node of Protein Production Sweden

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