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Article

Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.

Journal of biomolecular structure & dynamics - 1 Sept 2021

Nasser Khalidah Khalid, Banaganapalli Babajan, Shinawi Thoraia, Elango Ramu, Shaik Noor Ahmad

Abstract excerpt

Lamellar ichthyosis (LI) is a rare inherited disease where affected infants present a extensive skin scaling characterized by hyperkeratosis. Inherited mutations in the Transglutaminase 1 (TGM1) protein is one of the known causative genetic factor for the LI. The main objective of this study is to explore the impact of LI causative missense mutations on the structural and stability aspects of TGM1 protein using...

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Identifiers

PMID: 32597326
DOI: 10.1080/07391102.2020.1782770

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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