Faculty Opinions recommendation of A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
2010 ◽
Vol 130
(6)
◽
pp. 1551-1557
◽
1996 ◽
Vol 98
(10)
◽
pp. 2196-2200
◽
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex
1998 ◽
Vol 11
(4)
◽
pp. 279-285
◽
2001 ◽
Vol 116
(1)
◽
pp. 182-187
◽
2017 ◽
Vol 42
(7)
◽
pp. 800-803
◽
2002 ◽
Vol 29
(3)
◽
pp. 136-145
◽
1989 ◽
Vol 125
(7)
◽
pp. 931-938
◽