Concepedia

Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol

C. Candini, Alinda W.M. Schimmel, Jorge Peter, A.E. Bochem, Adriaan G. Holleboom, M. Vergeer, Robin P. F. Dullaart, Geesje M. Dallinga‐Thie, G. Kees Hovingh, K.L. Khoo,

Atherosclerosis · 2010 · 49 citations · 25 references

Open access

Concepts

Life SciencesMolecular BiologyMolecular GeneticsLipid BiochemistryCholesterol MetabolismLipid Disorder GeneticsLipid DisordersLipid MetabolismLipid Metabolism DisordersLipoprotein MetabolismAdenosine Triphosphate-binding Cassette Transporter A1Adenosine Triphosphate-binding Cassette TransportersAtp-binding Cassette TransportersLipid Transport DefectsLipid Transport DisordersLoss-of-function MutationsTransporter AlterationsTransporter Genetic Variants

References

25

Primer3 on the WWW for General Users and for Biologist Programmers

Steve Rozen, Helen Skaletsky · Humana Press eBooks · 2003 · 15.1K citations

Life Sciences, Biology, Molecular Biology +7

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

Angela Brooks‐Wilson, Michel Marcil, Susanne M. Clee et al. · Nature Genetics · 1999 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +14

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

Marek Bodzioch, Evelyn Orsó, Jochen Klucken et al. · Nature Genetics · 1999 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +9