Franziska Ringpfeil

Pseudoxanthoma elasticum: Mutations in the <i>MRP6</i> gene encoding a transmembrane ATP-binding cassette (ABC) transporter

Franziska Ringpfeil, Mark Lebwohl, Angela M. Christiano et al. · Proceedings of the National Academy of Sciences · 2000 · 396 citations

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

Dessislava Markova, Yaqun Zou, Franziska Ringpfeil et al. · The American Journal of Human Genetics · 2003 · 152 citations · Full text

Genetic Diversity, Cutis Laxa, Comparative Genomics +10

Darier disease – novel mutations in ATP2A2 and genotype–phenotype correlation

Franziska Ringpfeil, A. Raus, John J. DiGiovanna et al. · Experimental Dermatology · 2001 · 118 citations

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

Leena Pulkkinen, Aoi Nakano, Franziska Ringpfeil et al. · Human Genetics · 2001 · 85 citations

Chromatin, Somatic Variant, Genetic Disorder +11

Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum

Franziska Ringpfeil, Aoi Nakano, Jouni Uitto et al. · The American Journal of Human Genetics · 2001 · 83 citations · Full text

Abcc6 Gene Results, Genetics, Genome Structure +11