A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type-Reference-Cited by-同舟云学术

A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type

Published:2021-05-11 Issue:7 Volume:42 Page:818-826
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Mullany Sean¹^ORCID,Souzeau Emmanuelle¹^ORCID,Klebe Sonja²³,Zhou Tiger¹,Knight Lachlan S. W.¹,Qassim Ayub¹,Berry Ella C.¹,Marshall Henry¹,Hussey Matthew³,Dubowsky Andrew³,Breen James⁴,Hassall Mark M.¹,Mills Richard A.¹,Craig Jamie E.¹,Siggs Owen M.¹

Affiliation:

1. Flinders Department of Ophthalmology, College of Medicine and Public Health Flinders University Bedford Park South Australia Australia

2. Department of Pathology, College of Medicine and Public Health Flinders University Bedford Park South Australia Australia

3. Department of Anatomical Pathology, SA Pathology Flinders Medical Centre Bedford Park South Australia Australia

4. SAHMRI Bioinformatics Core South Australian Health and Medical Research Institute Adelaide South Australia Australia

Funder

National Health and Medical Research Council

Hospital Research Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24214

Reference39 articles.

1. Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East

2. Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation;Cabral‐Macias J.;Molecular Vision,2020

3. Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

4. Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca2+ stabilization

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