Frank J - Search Results

1

The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.

Poblete-Gutiérrez P, Mendez M, Wiederholt T, Merk HF, Fontanellas A, Wolff C, Frank J. Poblete-Gutiérrez P, et al. Among authors: frank j. Exp Dermatol. 2004 Jun;13(6):372-9. doi: 10.1111/j.0906-6705.2004.00163.x. Exp Dermatol. 2004. PMID: 15186324

2

Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.

Frank J, Jugert FK, Kalka K, Goerz G, Merk HF, Christiano AM. Frank J, et al. J Invest Dermatol. 1998 Apr;110(4):449-51. doi: 10.1046/j.1523-1747.1998.00147.x. J Invest Dermatol. 1998. PMID: 9540990 Free article. Review.

3

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.

Frank J, McGrath J, Lam H, Graham RM, Hawk JL, Christiano AM. Frank J, et al. J Invest Dermatol. 1998 Apr;110(4):452-5. doi: 10.1046/j.1523-1747.1998.00148.x. J Invest Dermatol. 1998. PMID: 9540991 Free article. Review.

4

Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.

Frank J, Jugert FK, Breitkopf C, Goerz G, Merk HF, Christiano AM. Frank J, et al. Am J Med Genet. 1998 Aug 27;79(1):22-6. Am J Med Genet. 1998. PMID: 9738863

5

C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Frank J, Wang X, Lam HM, Aita VM, Jugert FK, Goerz G, Merk HF, Poh-Fitzpatrick MB, Christiano AM. Frank J, et al. Ann Hum Genet. 1998 May;62(Pt 3):225-30. doi: 10.1046/j.1469-1809.1998.6230225.x. Ann Hum Genet. 1998. PMID: 9803266

6

Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.

Frank J, Nelson J, Wang X, Yang L, Ahmad W, Lam H, Jugert FK, Kalka K, Poh-Fitzpatrick MB, Goerz G, Merk HF, Christiano AM. Frank J, et al. J Investig Med. 1999 Jul;47(6):278-84. J Investig Med. 1999. PMID: 10431482

7

Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.

Frank J, McGrath JA, Poh-Fitzpatrick MB, Hawk JL, Christiano AM. Frank J, et al. Clin Exp Dermatol. 1999 Jul;24(4):296-301. doi: 10.1046/j.1365-2230.1999.00484.x. Clin Exp Dermatol. 1999. PMID: 10457135

8

Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.

Frank J, Aita VM, Ahmad W, Lam H, Wolff C, Christiano AM. Frank J, et al. Hum Hered. 2001;51(3):160-8. doi: 10.1159/000053337. Hum Hered. 2001. PMID: 11173967

9

Characterization of the desmosomal cadherin gene family: genomic organization of two desmoglein genes on human chromosome 18q12.

Frank J, Cserhalmi-Friedman PB, Ahmad W, Panteleyev AA, Aita VM, Christiano AM. Frank J, et al. Exp Dermatol. 2001 Apr;10(2):90-4. doi: 10.1034/j.1600-0625.2001.010002090.x. Exp Dermatol. 2001. PMID: 11260246

10

A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.

Frank J, Jugert FK, Merk HF, Kalka K, Goerz G, Anderson K, Bickers DR, Poh-Fitzpatrick MB, Christiano AM. Frank J, et al. J Invest Dermatol. 2001 May;116(5):821-3. doi: 10.1046/j.1523-1747.2001.01308.x. J Invest Dermatol. 2001. PMID: 11348478 Free article. No abstract available.

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