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.

Takizawa, Y

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. [electronic resource] - The Journal of investigative dermatology Dec 1998 - 1239-41 p. digital

Publication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0022-202X

10.1038/sj.jid.5600370 doi


Codon, Nonsense--genetics
Epidermolysis Bullosa, Junctional--epidemiology
Frameshift Mutation
Humans
Japan--epidemiology
Laminin--genetics
Mutation
Prenatal Diagnosis