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Construction of a New Familial Hypercholesterolemia Variant Data Base. A Systematic Review for a 2015 Update
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 671.86 KB | Adobe PDF |
Orientador(es)
Resumo(s)
Aims: Familial
hypercholesterolemia
(FH)
is
an
autosomal
dominant
disorder
with
increased
cardiovascular
risk,
caused
by
mutations
in
LDLR,
APOB
and
PCSK
9
genes.
Although
it
is
described
that
over
1700
variants
have
been
found,
none
of
the
existing
databases
are
completely
updated.
The
aim
of
this
work
is
to
construct
a
FH
database
in
order
to
provide
a
unique
source
of
verified
information
about
variants
associated
with
FH
for
a
more
accurate
genetic
diagnosis.
Descrição
Palavras-chave
Doenças Cardio e Cérebro-vasculares Familial Hypercholesterolemia
Contexto Educativo
Citação
Editora
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP