Marcia Sommer

Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation

Birgit Gathof, Marcia Sommer, Teodor Podskarbi et al. · Human Genetics · 1995 · 27 citations

Somatic Variant, Mendelian Disorder, Genetic Disorder +12

Probe mapping to facilitate transposon-based DNA sequencing.

Linda D. Strausbaugh, Michael T. Bourke, Marcia Sommer et al. · Proceedings of the National Academy of Sciences · 1990 · 27 citations · Full text

Genetics, Molecular Biology, Genomics +16

Mutations in the galactose‐1‐phosphate uridyltransferase gene of two families with mild galactosaemia variants

Marcia Sommer, Birgit Gathof, Teodor Podskarbi et al. · Journal of Inherited Metabolic Disease · 1995 · 18 citations

Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia

Yoon S. Shin, Birgit Gathof, Teodor Podskarbi et al. · European Journal of Pediatrics · 1996 · 17 citations

Missense Mutations, Cellular Enzymology, Genetics +8