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The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Mutations
that
change
the
same
amino
acid
can
result
in
different
clinical
phenotypes
.
Through
in
silico
modeling
and
keratin
filament
assessment
of
genetically
engineered
HaCaT
cells
,
Natsuga
et
al
.
,
as
reported
in
this
issue
,
have
demonstrated
how
changes
in
charge
and
structure
of
a
replacement
amino
acid
in
keratin
14
can
cause
disease
(
KRT
1
4
pA
413
P
,
EB
simplex
)
or
no
clinical
effect
(
KRT
1
4
pA
413
T
,
polymorphism
)
.
Diseases
Validation
Diseases presenting
"different clinical phenotypes"
symptom
allergic bronchopulmonary aspergillosis
classical phenylketonuria
epidermolysis bullosa simplex
omenn syndrome
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