Laminin-5 Mutational Analysis in an Italian Cohort of Patients with Junctional Epidermolysis Bullosa-Reference-Cited by-同舟云学术

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Laminin-5 Mutational Analysis in an Italian Cohort of Patients with Junctional Epidermolysis Bullosa

Published:2004-10 Issue:4 Volume:123 Page:639-648
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Posteraro Patrizia,De Luca Naomi,Meneguzzi Guerrino,El Hachem May,Angelo Corrado,Gobello Tommaso,Tadini Gianluca,Zambruno Giovanna,Castiglia Daniele

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference40 articles.

1. Herlitz's junctional epidermolysis bullosa is genetically linked to mutations in the nicein/kalinin (laminin-5) LAMC2 gene;Aberdam;Nat Genet,1994

2. Structure of the human laminin γ2 chain gene (LAMC2): Alternative splicing with different tissue distribution of two transcripts;Airenne;Genomics,1996

3. A recurrent laminin-5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: Evidence for a mutational hotspot rather than propagation of an ancestral allele;Ashton;Br J Dermatol,1997

4. A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa;Baudoin;Hum Mol Genet,1994

5. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy;Bauer;Clin Exp Dermatol,2003

Cited by 35 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genotype–Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity;Journal of Investigative Dermatology;2023-12

2. Junctional epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-01-27

3. A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa;European Journal of Dermatology;2022-09-01

4. Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy;Human Molecular Genetics;2021-11-05

5. Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa;Frontiers in Genetics;2021-09-01

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