Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Research Project (R01)
Project #
5R01AR018549-21
Application #
2078390
Study Section
Surgery and Bioengineering Study Section (SB)
Project Start
1987-02-01
Project End
1999-08-31
Budget Start
1996-09-01
Budget End
1997-08-31
Support Year
21
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Columbia University (N.Y.)
Department
Dermatology
Type
Schools of Medicine
DUNS #
167204994
City
New York
State
NY
Country
United States
Zip Code
10032
Poh-Fitzpatrick, Maureen B; Wang, Xiuhua; Anderson, Karl E et al. (2002) Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations. J Am Acad Dermatol 46:861-6
Frank, J; Jugert, F K; Merk, H F et al. (2001) A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. J Invest Dermatol 116:821-3
Bloomer, J R; Poh-Fitzpatrick, M B (2000) Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria. Trans Am Clin Climatol Assoc 111:245-56; discussion 256-7
Wang, X; Yang, L; Kurtz, L et al. (1999) Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene. J Invest Dermatol 113:87-92
Frank, J; McGrath, J A; Poh-Fitzpatrick, M B et al. (1999) Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria. Clin Exp Dermatol 24:296-301
Frank, J; Nelson, J; Wang, X et al. (1999) Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies. J Investig Med 47:278-84
Frank, J; Wang, X; Lam, H M et al. (1998) C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Ann Hum Genet 62:225-30
Bonkovsky, H L; Poh-Fitzpatrick, M; Pimstone, N et al. (1998) Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology 27:1661-9
Poh-Fitzpatrick, M B (1998) Clinical features of the porphyrias. Clin Dermatol 16:251-64
Zaider, E; Bickers, D R (1998) Clinical laboratory methods for diagnosis of the porphyrias. Clin Dermatol 16:277-93

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