Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) in exon 14 of the LAMB3 gene in herlitz junctional epidermolysis bullosa: Application for prenatal testing

✍ Scribed by Takizawa, Yasuko; Shimizu, Hiroshi; Suzumori, Kaoru; Pulkkinen, Leena; Kakinuma, Hiroaki; Uitto, Jouni; Nishikawa, Takeji

• Book ID: 119562010
• Publisher: Elsevier Science
• Year: 1998
• Tongue: English
• Weight: 193 KB
• Volume: 16
• Category: Article
• ISSN: 0923-1811
• DOI: 10.1016/s0923-1811(98)83228-3