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Article

Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.

The Journal of investigative dermatology - 1 Feb 1998

Bichakjian C K, Nair R P, Wu W W, Goldberg S, Elder J T

Abstract excerpt

Lamellar ichthyosis is a severe, generalized, autosomal recessive genodermatosis characterized clinically by large, parchment-like scales and histologically by acanthosis and marked hyperkeratosis. Genetic heterogeneity in lamellar ichthyosis has been recognized with reports of two linked loci (o...

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PMID: 9457916
DOI: 10.1046/j.1523-1747.1998.00104.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9457916-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.PMID 9457916Read ↗

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.Semantic proximity Read ↗

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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 ↗

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

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

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.Semantic proximity Read ↗

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.Semantic proximity Read ↗

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Semantic proximity Read ↗

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.Semantic proximity Read ↗

Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.Semantic proximity Read ↗

Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.Semantic proximity Read ↗

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