GGCX variants leading to biallelic deficiency to γ‐carboxylate GRP cause skin laxity in VKCFD1 patients-Reference-Cited by-同舟云学术

GGCX variants leading to biallelic deficiency to γ‐carboxylate GRP cause skin laxity in VKCFD1 patients

Published:2021-12-02 Issue:1 Volume:43 Page:42-55
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ghosh Suvoshree¹,Kraus Katrin¹,Biswas Arijit¹,Müller Jens¹,Forin Francesco¹,Singer Heike¹,Höning Klara²,Hornung Veit²³,Watzka Matthias¹⁴,Oldenburg Johannes¹⁴,Czogalla‐Nitsche Katrin J.¹^ORCID

Affiliation:

1. Institute of Experimental Haematology and Transfusion Medicine University Clinic Bonn Bonn Germany

2. Unit for Clinical Biochemistry Institute for Clinical Chemistry and Clinical Pharmacology, University Hospital, University of Bonn Bonn Germany

3. GeneCenter and Department of Biochemistry Ludwig‐Maximilians‐Universität München Munich Germany

4. Center for Rare Diseases Bonn University Clinic Bonn Bonn Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24300

Reference45 articles.

1. The physiology of vitamin K nutriture and vitamin K-dependent protein function in atherosclerosis

2. A Missense Mutation in γ-Glutamyl Carboxylase Gene Causes Combined Deficiency of All Vitamin K-Dependent Blood Coagulation Factors

3. Compound Heterozygosity of a W493C Substitution and R704/Premature Stop Codon within the γ-Glutamyl Carboxylase in Combined Vitamin K-Dependent Coagulation Factor Deficiency in a French Family.

4. Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K–dependent coagulation factor deficiency

5. Ucma is not necessary for normal development of the mouse skeleton

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1. Vitamin K-Dependent Coagulation Factors Deficiency, Diagnosis, and Management;Congenital Bleeding Disorders;2023

2. The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes;International Journal of Molecular Sciences;2022-01-12