Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa.
Kouno M et al.
Clinical and Experimental Dermatology, 2011
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
Mühle C et al.
Human Genetics, 2005
Progress in epidermolysis bullosa: genetic classification and clinical implications.
Uitto J et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2004
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.
Takizawa Y et al.
The Journal of Investigative Dermatology, 2000
Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene. Mutations in brief no. 189. Online.
Syagailo Y et al.
Human Mutation, 1998
Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online.
Kon A et al.
Human Mutation, 1998
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