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

[Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2012

Zhang Yong-ling, Yue Zhi-hui, Yuan Ping, Zhou Qing, Huang Wei-jun, Hu Bin, Wang Yi-ming

Abstract excerpt

OBJECTIVE: To identify potential mutations in a Chinese collodion baby. METHODS: The patient was investigated clinically. DNA was extracted from peripheral blood of the baby and his parents. All coding exons(exons 2-15) and splicing sites of transglutaminase 1(TGM1) were amplified by polymerase chain reaction (PCR). Mutation detection was performed by directed sequencing of the PCR products. A total of 100...

Read the complete abstract on PubMed

Topics

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

Share to Case-Control Studies
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Ichthyosis, Lamellar

Share to Infant

Share to Mutation

Share to Pedigree

Share to Transglutaminases

Source

Identifiers

PMID: 22311480
DOI: 10.3760/cma.j.issn.1003-9406.2012.01.001

Genes

TGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].PMID 22311480Read ↗

[Gene mutation analysis of a collodion baby].Semantic proximity Read ↗

[Analysis of TGM1 gene mutation in a collodion baby].Semantic proximity Read ↗

A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion.Semantic proximity Read ↗

[Analysis of clinical features and pathogenic variants in a Chinese pedigree affected with congenital glycosylation disease].Semantic proximity Read ↗

Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.Semantic proximity Read ↗

[Genetic analysis of a Chinese patient with congenital disorders of glycosylation-If].Semantic proximity Read ↗

[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].Semantic proximity Read ↗

[Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness].Semantic proximity Read ↗

[Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review].Semantic proximity Read ↗

[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis].Semantic proximity Read ↗

[Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome].Semantic proximity Read ↗

Molecular genetic analysis of para-Bombay phenotype in Chinese persons: a novel FUT1 allele is identified.Semantic proximity Read ↗

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