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.

• Authors: Y Takizawa, H Shimizu, L Pulkkinen, K Suzumori, H Kakinuma, J Uitto, T Nishikawa
• Journal: The Journal of investigative dermatology (J Invest Dermatol) Vol. 111 Issue 6 Pg. 1239-41 (Dec 1998) ISSN: 0022-202X [Print] United States
• PMID: 9856852 (Publication Type: Letter, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Codon, Nonsense
• Laminin

Topics

• Codon, Nonsense (genetics)
• Epidermolysis Bullosa, Junctional (epidemiology, genetics)
• Frameshift Mutation
• Humans
• Japan (epidemiology)
• Laminin (genetics)
• Mutation
• Prenatal Diagnosis