Polymorphisms in the <i>DLG5</i> and OCTN cation transporter genes in Crohn’s disease

Helga‐Paula Török, Jürgen Glas, L Tonenchi, +17

Gut

Respiratory disease in Niemann‐Pick type C2 is caused by pulmonary alveolar proteinosis

Matthias Griese, Frank Brasch, VR Aldana, +14

Clinical Genetics

Brief Report: Clinical and Molecular Phenotypes of Low‐Penetrance Variants of <i><scp>NLRP</scp>3</i>: Diagnostic and Therapeutic Challenges

J. B. Kuemmerle‐Deschner, Deepti Verma, Theresa Endres, +12

Arthritis & Rheumatology

The Alkali Light Chains of Human Smooth and Nonmuscle Myosins Are Encoded by a Single Gene

Susan Lenz, P Lohse, Ulla K. Seidel, +1

Journal of Biological Chemistry

Muscle FunctionEngineeringMlc IsoformsHuman SmoothMolecular Biology +20

Genetic polymorphism of human plasma apolipoprotein A-IV is due to nucleotide substitutions in the apolipoprotein A-IV gene.

P Lohse, M. R. Kindt, D J Rader, +1

Journal of Biological Chemistry

Apoa-iv PolymorphismGeneticsGenetic EpidemiologyHuman PolymorphismPathology +18

Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics

Elke Lainka, Ulrich Neudorf, P Lohse, +4

Lara D. Veeken

Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.

P Lohse, rd HB Brewer, S I Skarlatos, +2

Journal of Lipid Research

Apolipoprotein E DeficiencyGeneticsImmunologyHuman PolymorphismPathology +22

Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83–&gt;stop) and LCAT (tyr156–&gt;asn).

Hanns‐Georg Klein, P Lohse, Nicolas Duverger, +5

Journal of Lipid Research

A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency.

S S Fojo, P Lohse, Catherine L. Parrott, +5

Journal of Clinical Investigation

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +15

Apolipoprotein E-4Philadelphia (Glu13—-Lys,Arg145—-Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia

P Lohse, W. Alexander Mann, Eric A. Stein, +1

Journal of Biological Chemistry