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A random Abstract
Our Project
Our Team
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
[classical phenylketonuria]
To
investigate
the
mutations
of
phenylalanine
hydroxylase
(
PAH
)
gene
in
the
cases
of
classical
phenylketonuria
(
PKU
)
.
The
exons
3
-
12
of
the
PAH
gene
in
32
PKU
patients
from
Inner
Mongolia
were
studied
by
using
PCR-
single
strand
conformation
polymorphism
technique
and
DNA
direct
sequencing
.
Fourteen
point
mutations
were
identified
.
The
frequencies
of
mutations
were
R
243
Q
(
12
/
64
)
,
Y
356
X
(
6
/
64
)
,
Y
204
C
(
5
/
64
)
,
R
261
Q
(
2
/
64
)
,
Y
161
S
(
2
/
64
)
,
R
252
Q
(
1
/
64
)
,
R
111
X
(
2
/
64
)
,
D
282
G
(
1
/
64
)
,
S
303
P
(
1
/
64
)
,
G
239
D
(
1
/
64
)
,
R
413
P
(
1
/
64
)
,
IVS
7
nt
+
2
(
2
/
64
)
,
IVS
4
nt
+
3
(
1
/
64
)
and
IVS
9
nt
+
34
(
2
/
64
)
.
Two
novel
mutations
IVS
4
nt
+
3
(
G
>
C
)
and
IVS
9
nt
+
34
(
G
>
A
)
were
first
found
.
The
S
303
P
(
T
>
C
)
and
D
282
G
(
A
>
G
)
were
first
documented
in
Chinese
PAH
gene
.
This
study
demonstrated
the
variety
of
the
mutation
type
PAH
gene
of
PKU
in
Inner
Mongolia
population
,
and
confirmed
that
R
243
Q
,
Y
356
X
,
Y
204
C
were
the
hot
spots
of
PAH
gene
mutation
.
Diseases
Validation
Diseases presenting
"nt+3"
symptom
classical phenylketonuria
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