Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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The gene family of ABC transporters--novel mutations, new phenotypes.
[harlequin ichthyosis]
Members
of
the
ABC
(
ATP-binding
cassette
)
superfamily
of
genes
encode
transmembrane
proteins
that
are
involved
in
the
transport
of
a
variety
of
substrates
both
in
and
out
of
the
cells
,
in
addition
to
across
intracellular
membranes
.
Recently
,
mutations
in
two
ABC
-transporter
genes
,
ABCC
6
and
ABCA
12
,
have
been
demonstrated
to
underlie
phenotypically
different
diseases
affecting
the
skin
(
pseudoxanthoma
elasticum
and
harlequin
ichthyosis
,
respectively
)
,
attesting
to
the
spectrum
of
ABC
gene
mutations
in
human
diseases
.
These
findings
have
a
major
impact
on
the
molecular
genetics
of
these
devastating
disorders
in
terms
of
DNA-based
prenatal
testing
and
pre-implantation
genetic
diagnosis
.
Diseases
Validation
Diseases presenting
"prenatal testing"
symptom
canavan disease
congenital adrenal hyperplasia
epidermolysis bullosa simplex
erythropoietic protoporphyria
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
pendred syndrome
von hippel-lindau disease
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