Rare Diseases Symptoms Automatic Extraction
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[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis].
[classical phenylketonuria]
To
establish
a
simple
,
rapid
,
inexpensive
and
sensitive
method
for
detecting
hot
region
for
mutations
in
exon
7
of
PAH
gene
.
High
-resolution
melting
(
HRM
)
technology
was
used
to
detect
a
c
.
728
G
>
A
mutation
in
exon
7
in
88
patients
with
classical
type
phenylketonuria
.
Suspected
mutations
were
validated
by
direct
DNA
sequencing
.
The
results
detected
by
HRM
are
in
good
agreement
with
the
results
obtained
by
direct
sequencing
.
HRM
analysis
is
a
simple
,
rapid
,
inexpensive
and
sensitive
method
for
detecting
hot
mutational
region
in
exon
7
of
PAH
gene
.
