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
Y
Shimizu
H
H
Pulkkinen
L
L
Suzumori
K
K
Kakinuma
H
H
Uitto
J
J
Nishikawa
T
T
D018389:Codon, Nonsense / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000453:epidemiology / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007797:Laminin / Q000235:genetics*; D009154:Mutation; D011296:Prenatal Diagnosis
D018389:Codon, Nonsense; D007797:Laminin