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Results:
1-7
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Results: 7
Authors:
Uitto, J
Pulkkinen, L
Ringpfeil, F
Citation: J. Uitto et al., Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?, TRENDS MO M, 7(1), 2001, pp. 13-17
Authors:
Ringpfeil, F
Raus, A
DiGiovanna, JJ
Korge, B
Harth, W
Mazzanti, C
Uitto, J
Bale, SJ
Richard, G
Citation: F. Ringpfeil et al., Darier disease - novel mutations in ATP2A2 and genotype-phenotype correlation, EXP DERMATO, 10(1), 2001, pp. 19-27
Authors:
Pulkkinen, L
Nakano, A
Ringpfeil, F
Uitto, J
Citation: L. Pulkkinen et al., Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum, HUM GENET, 109(3), 2001, pp. 356-365
Authors:
Davidson, KA
Ringpfeil, F
Lee, JB
Citation: Ka. Davidson et al., Ibuprofen induced bullous leukocytoclastic vasculitis, CUTIS, 67(4), 2001, pp. 303-307
Authors:
Ringpfeil, F
Nakano, A
Uitto, J
Pulkkinen, L
Citation: F. Ringpfeil et al., 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, AM J HU GEN, 68(3), 2001, pp. 642-652
Authors:
Cai, L
Struk, B
Adams, MD
Ji, W
Haaf, T
Kang, HL
Dho, SH
Xu, XQ
Ringpfeil, F
Nancarrow, J
Zach, S
Schaen, L
Stumm, M
Niu, TH
Chung, J
Lunze, K
Verrecchia, B
Goldsmith, LA
Viljoen, D
Figuera, LE
Fuchs, W
Lebwohl, M
Uitto, J
Richards, R
Hohl, D
Ramesar, R
Callen, DF
Kim, UJ
Doggett, NA
Neldner, KH
Lindpainter, K
Citation: L. Cai et al., A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure, J MOL MED-J, 78(1), 2000, pp. 36-46
Authors:
Ringpfeil, F
Lebwohl, MG
Christiano, AM
Uitto, J
Citation: F. Ringpfeil et al., Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter, P NAS US, 97(11), 2000, pp. 6001-6006
Risultati:
1-7
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