A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings-Reference-Cited by-同舟云学术

A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings

Published:2021-11 Issue:6 Volume:45 Page:101640
ISSN:2210-7401
Container-title:Clinics and Research in Hepatology and Gastroenterology
language:en
Short-container-title:Clinics and Research in Hepatology and Gastroenterology

Author:

Duclaux-Loras Rémi,Bourgeois Patrice,Lavrut Pierre-Marie,Charbit-Henrion Fabienne^ORCID,Bonniaud-Blot Pauline,Maudinas Raphael,Bournez Marie^ORCID,Faure Mathias,Cerf-Bensussan Nadine,Lachaux Alain,Peretti Noel^ORCID,Fabre Alexandre

Publisher

Elsevier BV

Subject

Gastroenterology,Hepatology

Reference20 articles.

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2. Common nonsynonymous variants in PCSK1 confer risk of obesity;Benzinou;Nat Genet,2008

3. PCSK1 mutations and human endocrinopathies: from obesity to gastrointestinal disorders;Stijnen;Endocr Rev,2016

4. Serine proteases;Di Cera;IUBMB Life,2009

5. A new case of PCSK1 pathogenic variant with congenital proprotein convertase 1/3 deficiency and literature review;Pépin;J Clin Endocrinol Metab,2019

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4. Modulation of PC1/3 activity by a rare double-site homozygous mutation;Frontiers in Pediatrics;2022-10-31

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