Literature DB >> 9856852

Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

Y Takizawa, H Shimizu, L Pulkkinen, K Suzumori, H Kakinuma, J Uitto, T Nishikawa.   

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Year:  1998        PMID: 9856852     DOI: 10.1038/sj.jid.5600370

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


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  1 in total

1.  Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Authors:  R Varki; S Sadowski; E Pfendner; J Uitto
Journal:  J Med Genet       Date:  2006-02-10       Impact factor: 6.318

  1 in total

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