A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency (Q24685930)
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(P304) 617-625
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(P433) 2
(P478) 158
(P577) Thursday, February 1, 2001
(P921) (Q3124960)
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(P1476) "A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency" (language: en)
(P2093) J W Bauer
F Rouan
I Kornacker
R Hametner
A Klausegger
A Huber
G Pohla-Gubo
G Wiche
J Uitto
H Hintner
(P2860) (Q24670751)
(Q24595958)
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(Q38314631)
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