Carriers of <scp> <i>COL3A1</i> </scp> pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures-Reference-Cited by-同舟云学术

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

Published:2022-07-04 Issue:3 Volume:102 Page:191-200
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Sølyst Sofus¹²,Oksjoki Riina³,Farholt Stense⁴⁵,Nielsen Dorte Guldbrand³,Christensen Alex H.²⁶,Fagerberg Christina R.⁷^ORCID,Risom Lotte¹,Gregersen Pernille Axél⁸^ORCID,Christensen Maria Bejerholm¹^ORCID,Rasmussen Torsten Bloch³,Diness Birgitte Rode¹²^ORCID

Affiliation:

1. Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

2. Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark

3. Department of Cardiology Copenhagen University Hospital, Herlev‐Gentofte and Rigshospitalet Copenhagen Denmark

4. Department of Cardiology Aarhus University Hospital Aarhus Denmark

5. Center for Rare Diseases, Pediatric and Adolescent Medicine Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

6. Center for Rare Diseases, Pediatric and Adolescent Medicine Aarhus University Hospital Aarhus Denmark

7. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark

8. Department of Clinical Genetics Odense University Hospital Odense Denmark

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14176

Reference31 articles.

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5. Folding Mechanism of the Triple Helix in Type-III Collagen and Type-III pN-Collagen. Role of Disulfide Bridges and Peptide Bond Isomerization

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