Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia

scientific article

Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1089/109065703321560994
P698PubMed publication ID12820708

P2093author name stringJoep C Defesche
Laura van de Kerkhof
José-Ernesto Dos-Santos
Silvia J Van Eijk
P433issue1
P921main subjecthomozygous familial hypercholesterolemiaQ15815863
homozygosityQ114049690
lipoproteinQ28350
hypercholesterolemiaQ762713
P304page(s)77-79
P577publication date2003-01-01
P1433published inGenetic Testing and Molecular BiomarkersQ15753742
P1476titleIdentification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia
P478volume7

Reverse relations

Q30244116The panorama of familial hypercholesterolemia in Latin America: a systematic reviewcites workP2860

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