Transcriptional and translational effects of intronic CAPN3 gene mutations-Reference-Cited by-同舟云学术

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Transcriptional and translational effects of intronic CAPN3 gene mutations

Published:2010-07-15 Issue:9 Volume:31 Page:E1658-E1669
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Nascimbeni Anna Chiara,Fanin Marina,Tasca Elisabetta,Angelini Corrado

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21320/fullpdf

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3. A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort;Turkish Journal of Medical Sciences;2024-01-01

4. Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene;neurogenetics;2023-08-17

5. CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related;Human Mutation;2022-06-22

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