Compound Heterozygous Mutations Including a De Novo Missense Mutation in ABCA12 Led to a Case of Harlequin Ichthyosis with Moderate Clinical Severity

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

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Stephan Rust, Marie Rosier, Harald Funke et al. · Nature Genetics · 1999 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +9

Insights into the Function of Rim Protein in Photoreceptors and Etiology of Stargardt's Disease from the Phenotype in abcr Knockout Mice

Jian Weng, Nathan L. Mata, Sassan M. Azarian et al. · Cell · 1999 · 882 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Mutation of the Stargardt Disease Gene ( <i>ABCR</i> ) in Age-Related Macular Degeneration

Rando Allikmets, Noah F. Shroyer, Nanda Singh et al. · Science · 1997 · 878 citations

Medicine, Genetics, Molecular Genetics +17

Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice

Evelyn Orsó, Cyril Broccardo, Wolfgang E. Kaminski et al. · Nature Genetics · 2000 · 478 citations

Life Sciences, Cell Biology, Molecular Biology +14