L. Kochhan

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA

Miyoko Higuchi, Corinne Wong, L. Kochhan et al. · Genomics · 1990 · 84 citations

Genetic Analysis, Dna Sequencing, Medicine +9

Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis

Miyoko Higuchi, L. Kochhan, R Schwaab et al. · Blood · 1989 · 35 citations · Full text

Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation

Robin Kobbe, Manuela Kolster, Sebastian Fuchs et al. · Gene · 2016 · 34 citations

Primary Immunodeficiency, Developmental Biology, Autoimmune Disease +15

A somatic mosaic for haemophilia A detected at the DNA level.

Miyoko Higuchi, L. Kochhan, K. Olek · PubMed · 1988 · 34 citations

Somatic Mosaic, Family Members, Partial Gene Deletion +15

Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography.

Anna Pavlova, Osman El‐Maarri, Beate Luxembourg et al. · PubMed · 2006 · 22 citations

Gene Deletion Data, Heterozygous Large Deletions, Medicine +15