Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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[Photosensitive disorders--focusing on photosensitive genetic diseases].
[erythropoietic protoporphyria]
Among
various
photosensitive
disorders
,
photosensitive
genetic
diseases
are
noticeable
in
that
physicians
play
a
key
role
in
early
diagnosis
.
Xeroderma
pigmentosum
(
XP
)
and
erythropoetic
protoporphyria
(
EPP
)
are
focused
on
this
issue
as
photosensitive
genetic
diseases
.
XP
is
characterized
by
the
proneness
to
skin
cancers
of
sun-exposed
area
from
younger
age
.
XP
-A
through
G
and
XP
-V
are
caused
by
the
deficiency
in
nucleotide
excision
repair
(
NER
)
and
by
translesional
synthesis
,
respectively
.
NER
is
closely
related
to
the
transcription
and
the
neurological
features
developed
in
some
XP
patients
are
attributed
to
the
transcription
abnormalities
.
As
for
EPP
,
it
was
shown
that
the
combination
of
mutation
in
FECH
in
one
allele
and
the
low
expression
type
SNP
in
the
other
allele
cause
the
apparent
clinical
phenotype
.
