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Article

Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.

Journal of dermatological science - 1 Nov 2013

Sugiura Kazumitsu, Suga Yasushi, Akiyama Masashi

Abstract excerpt

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Topics

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Share to Arginine
Share to Ichthyosis, Lamellar
Share to Infant, Newborn, Diseases
Share to Leucine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Phenylalanine

Share to Sequence Homology, Amino Acid

Share to Transglutaminases

Source

Identifiers

PMID: 23895935
DOI: 10.1016/j.jdermsci.2013.06.013

Genes

TGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.PMID 23895935Read ↗

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Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis.Semantic proximity Read ↗

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Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.Semantic proximity Read ↗

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.Semantic proximity Read ↗

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