Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

P Trouillas, T Takayanagi, Mark Hallett et al. · Journal of the Neurological Sciences · 1997 · 1.3K citations

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Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

Daru Sharp, Laura Blinderman, Kelly A. Combs et al. · Nature · 1993 · 503 citations

Life Sciences, Biochemistry, Molecular Biology +14

MALFORMATION OF THE ERYTHROCYTES IN A CASE OF ATYPICAL RETINITIS PIGMENTOSA

Frank A. Bassen, Abraham L. Kornzweig · Blood · 1950 · 371 citations

Medicine, Genetics, Ophthalmology +10