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Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
[krabbe disease]
Krabbe
disease
(
OMIM
#
245200
)
is
a
rare
autosomal
recessive
leukodystrophy
caused
by
deficiency
of
galactocerebrosidase
(
GALC
)
activity
.
We
identified
four
novel
mutations
of
the
GALC
gene
in
two
unrelated
Chinese
families
with
Krabbe
disease
:
one
insertion
mutation
,
c
.
1836
_
1837
insT
,
and
one
nonsense
mutation
,
c
.
599
C
>
A
(
p
.
S
200
X
)
,
in
an
infantile
patient
,
and
one
deletion
mutation
,
c
.
1911
+
1
_
1911
+
5
delGTAAG
,
and
one
missense
mutation
,
c
.
2041
G
>
A
,
in
an
adult
late-onset
patient
.
This
is
the
first
identification
of
GALC
mutations
in
the
Chinese
population
.
Diseases
Validation
Diseases presenting
"first identification"
symptom
gm1 gangliosidosis
krabbe disease
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