Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1-Reference-Cited by-同舟云学术

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Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1

Published:2009-04 Issue:4 Volume:30 Page:537-547
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Herman Matthew L.,Farasat Sharifeh,Steinbach Peter J.,Wei Ming-Hui,Toure Ousmane,Fleckman Philip,Blake Patrick,Bale Sherri J.,Toro Jorge R.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20952/fullpdf

Reference111 articles.

1. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer;Akiyama;J Clin Invest,2005

2. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma;Akiyama;Br J Dermatol,2001

3. Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis;Akiyama;J Invest Dermatol,2001

4. A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ictiosis phenotype;Akiyama;Br J Dermatol,2003

5. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs;Altschul;Nucleic Acids Res,1997

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2. Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis;Biomedicines;2024-05-17

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