Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Clinical and experimental dermatology - 1 Dec 2015

Pietrusiński M, Stańczyk-Przyłuska A, Chlebna-Sokól D, Borkowska E, Kalużewski B, Borowiec M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ichthyosis, Lamellar
Share to Infant, Newborn
Share to Mutation
Share to Retinoids

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Transglutaminases

Share to Treatment Outcome

Source

Identifiers

PMID: 25250916
DOI: 10.1111/ced.12456

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis.PMID 25250916Read ↗

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

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.Semantic proximity Read ↗

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

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

A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability.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 ↗

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 ↗

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

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

Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.Semantic proximity Read ↗

Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.