Original Article
GGCX variants leading to
biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1
patients
Running head: GRP determines skin laxity
Suvoshree Ghosh1, Katrin Kraus1,
Arijit Biswas1, Jens Müller1,
Francesco Forin1, Heike Singer1,
Klara Höning2, Veit Hornung2,3,
Matthias Watzka1,4, Johannes
Oldenburg1,4*, Katrin J.
Czogalla-Nitsche1*
1Institute of Experimental Haematology and Transfusion
Medicine, University Clinic , Venusberg-Campus 1, 53127
2Institute for Clinical Chemistry and Clinical
Pharmacology, Unit for Clinical Biochemistry, ,
3GeneCenter and Department of Biochemistry,
Ludwig-Maximilians-Universität München,
4Center for Rare Diseases , University Clinic ,
Venusberg-Campus 1, 53127
Corresponding authors:
Dr. Johannes Oldenburg
Institute of Experimental Haematology and Transfusion Medicine
University Clinic
Venusberg-Campus 1
53127
E-mail:
Johannes.Oldenburg@ukbonn.de
Dr. Katrin Czogalla-Nitsche
Institute of Experimental Haematology and Transfusion Medicine
University Clinic
Venusberg-Campus 1
53127
E-mail:
Katrin.Czogalla@ukbonn.de
phone: +49-228-287-16783
Abstract: 195 words
Words main: 3806 words
Tables and Figures: 6
References: 38
Supporting Information: 7 Figures and 3 Tables