Clinical utility gene card for: Abetalipoproteinaemia

scientific article published on 29 February 2012

Clinical utility gene card for: Abetalipoproteinaemia is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1034851190
P356DOI10.1038/EJHG.2012.30
P932PMC publication ID3400737
P698PubMed publication ID22378282
P5875ResearchGate publication ID221873938

P50authorRobert A. HegeleQ58046422
P2093author name stringJohn R Burnett
Amanda J Hooper
Damon A Bell
P2860cites workAbetalipoproteinemia: two case reports and literature reviewQ21202911
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemiaQ24671906
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer proteinQ28249803
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemiaQ28262033
The role of the microsomal triglygeride transfer protein in abetalipoproteinemiaQ33913539
Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolismQ36359516
Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patientsQ43839600
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemiaQ72057191
P433issue8
P921main subjectabetalipoproteinemiaQ319812
P577publication date2012-02-29
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleClinical utility gene card for: Abetalipoproteinaemia
P478volume20