Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.
[pyruvate dehydrogenase deficiency]
Mutations
in
the
E
3
-
binding
protein
component
of
pyruvate
dehydrogenase
complex
have
been
demonstrated
in
a
few
cases
of
Leigh
syndrome
.
We
report
that
two
mutations
previously
detected
in
the
E
3
-
binding
protein
cDNA
are
the
consequence
of
splice-site
mutations
.
Both
involved
a
single
base
substitution
in
the
conserved
dinucleotides
of
splice
junctions
,
one
leading
to
skipping
of
an
exon
and
the
other
,
to
activation
of
a
cryptic
site
.
Our
findings
add
to
the
understanding
of
molecular
basis
of
E
3
-
binding
protein
deficiency
and
indicate
yet
again
the
high
frequency
of
splicing
mutations
in
this
gene
.
Diseases
Validation
Diseases presenting
"binding protein deficiency"
symptom
pyruvate dehydrogenase deficiency
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