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[Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].
[classical phenylketonuria]
To
study
the
characteristics
of
the
phenylalanine
hydroxylase
gene
(
PAH
)
mutations
in
patients
with
phenylketonuria
(
PKU
)
in
Henan
province
,
in
order
to
provide
basic
information
for
genetic
counseling
and
prenatal
diagnosis
.
Mutations
of
the
PAH
gene
were
detected
in
exons
1
-
13
with
flanking
introns
of
PAH
gene
by
PCR
and
DNA
sequencing
in
47
families
with
PKU
.
A
total
of
25
different
mutations
were
detected
in
83
out
of
94
PAH
alleles
(
88
.
3
%
)
.
Among
them
,
E
79
fX
13
,
H
271
R
and
D
415
Y
have
not
been
reported
previously
.
It
was
the
first
time
that
IVS
10
-
14
C
to
G
mutation
was
reported
in
Chinese
PKU
population
.
The
mutations
p
.
R
243
Q
,
EX
6
-
96
A
to
G
,
p
.
Y
356
X
,
IVS
401
G
to
A
,
p
.
R
111
X
,
p
.
V
399
V
and
p
.
R
413
P
,
were
the
prevalent
mutations
with
relative
frequencies
of
20
.
5
%
,
12
.
0
%
,
9
.
6
%
,
9
.
6
%
,
8
.
4
%
,
8
.
4
%
and
7
.
2
%
respectively
.
The
mutations
of
the
PAH
gene
in
patients
with
classical
phenylketonuria
in
Henan
province
were
similar
to
that
in
other
areas
of
China
.
Prenatal
gene
diagnosis
for
PKU
by
PAH
gene
sequencing
is
efficient
for
most
PKU
families
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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