Molecular genetics of pseudoxanthoma elasticum by Ringpfeil, F., Pulkkinen, L., Uitto, J.

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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 by Ringpfeil, Franziska, Nakano, Aoi, Uitto, Jouni, Pulkkinen, Leena

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Identification of ABCC6 pseudogenes on human chromosome 16p : implications for mutation detection in pseudoxanthoma elasticum by PULKKINEN, Leena, NAKANO, Aoi, RINGPFEIL, Franziska, UITTO, Jouni

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Darier disease - novel mutations in ATP2A2 and genotype-phenotype correlation by Ringpfeil, F., Raus, A., DiGiovanna, J. J., Korge, B., Harth, W., Mazzanti, C., Uitto, J., Bale, S. J., Richard, G.

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Pseudoxanthoma Elasticum: Mutations in the MRP6 Gene Encoding a Transmembrane ATP-Binding Cassette (ABC) Transporter by Ringpfeil, Franziska, Lebwohl, Mark G., Christiano, Angela M., Uitto, Jouni

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Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment–genome interface? by Uitto, Jouni, Pulkkinen, Leena, Ringpfeil, Franziska

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Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene by Markova, Dessislava, Zou, Yaqun, Ringpfeil, Franziska, Sasaki, Takako, Kostka, Günter, Timpl, Rupert, Uitto, Jouni, Chu, Mon-Li

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Progress in heritable skin diseases: Molecular bases and clinical implications by Pulkkinen, Leena, Ringpfeil, Franziska, Uitto, Jouni

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Numerous Sebaceous Neoplasms in a Patient without Visceral Carcinomas by Ang, G., Campanelli, C., Ringpfeil, F., Webster, G., Lee, J.

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A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus : high-resolution mapping and genomic structure by LI CAI, STRUK, B, ZÄCH, S, SCHAEN, L, STUMM, M, TIANHUA NIU, JOON CHUNG, LUNZE, K, VERRECCHIA, B, GOLDSMITH, L. A, VILJOEN, D, FIGUERA, L. E, ADAMS, M. D, FUCHS, W, LEBWOHL, M, UITTO, J, RICHARDS, R, HOHL, D, RAMESAR, R, CALLEN, D. F, KIM, U.-J, DOGGETT, N. A, NELDNER, K. H, WAN JI, LINDPAINTNER, K, HAAF, T, KANG, H.-L, SO HEE DHO, XUEQUN XU, RINGPFEIL, F, NANCARROW, J

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A Kinetic Two-Phase and Equilibrium Solid Solution in Spinel Li4+xTi5O12 by Wagemaker, M., Simon, D. R., Kelder, E. M., Schoonman, J., Ringpfeil, C., Haake, U., Lützenkirchen-Hecht, D., Frahm, R., Mulder, F. M.

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A Kinetic Two‐Phase and Equilibrium Solid Solution in Spinel Li 4+ x Ti 5 O 12 by Wagemaker, M., Simon, D. R., Kelder, E. M., Schoonman, J., Ringpfeil, C., Haake, U., Lützenkirchen‐Hecht, D., Frahm, R., Mulder, F. M.

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