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

  • Published on:
    The D982G missense mutation in LAMB3 is unlikely to cause junctional epidermolysis bullosa

    We found this paper to be immensely informative while researching junctional epidermolysis bullosa (JEB) for a particular clinical case, which is described below. During the course of testing for this particular case we found evidence suggesting that that the D982G mutation in LAMB3 may not be disease-causing.

    In their paper, Varki, Sadowski, and Pfender et al. present the case of an eight-month-old male patie...

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    Conflict of Interest:
    None declared.