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Article

Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.

Indian journal of dermatology, venereology and leprology - 1 Jan 2000

Bai Juan, Ding Ying-guo, Wu Yin-hua, Qiao Jian-jun, Fang Hong

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

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Identifiers

PMID: 25851754
DOI: 10.4103/0378-6323.154786

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Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.PMID 25851754Read ↗

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

Novel transglutaminase 1 mutations in patients affected by 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 ↗

New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis.Semantic proximity Read ↗

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

Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.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 ↗

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

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

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

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

Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.Semantic proximity Read ↗

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