Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation von TEZCAN, I, XU, W, DESNICK, R. J, GURGEY, A, TUNCER, M, CETIN, M, ÖNER, C, YETGIN, S, ERSOY, F, AIZENCANG, G, ASTRIN, K. H

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Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease von ENG, C. M, RESNICK-SILVERMAN, L. A, NIEHAUS, D. J, ASTRIN, K. H, DESNICK, R. J

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Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease von Topaloglu, A K, Ashley, G A, Tong, B, Shabbeer, J, Astrin, K H, Eng, C M, Desnick, R J

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Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles von Mendez, Manuel, Sorkin, Lonnie, Rossetti, Maria Victoria, Astrin, Kenneth H., Batlle, Alcira M. del C., Parera, Victoria E., Aizencang, Gerardo, Desnick, Robert J.

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Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase gene von BERNSTEIN, H. S, BISHOP, D. F, ASTRIN, K. H, KORNREICH, R, ENG, C. M, SAKURABA, H, DESNICK, R. J

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Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria von Solis, C, Aizencang, G I, Astrin, K H, Bishop, D F, Desnick, R J

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Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP) von Solis, C, Lopez-Echaniz, I, Sefarty-Graneda, D, Astrin, K H, Desnick, R J

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Congenital Erythropoietic Porphyria: Prolonged High-Level Expression and Correction of the Heme Biosynthetic Defect by Retroviral-Mediated Gene Transfer into Porphyric and Erythroi... von Kauppinen, R., Glass, I.A., Aizencang, G., Astrin, K.H., Atweh, G.F., Desnick, R.J.

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Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene von Aizencang, G I, Bishop, D F, Forrest, D, Astrin, K H, Desnick, R J

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Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2→q26.3 von ASTRIN, K. H, WARNER, C. A, HAN-WOOK YOO, GOODFELLOW, P. J, SHIH-FENG TSAI, DESNICK, R. J

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δ-Aminolevulinic Acid Dehydratase Isozymes and Lead Toxicity von ASTRIN, K. H., BISHOP, D. F., WETMUR, J. G., KAUL, B., DAVIDOW, B., DESNICK, R. J.

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AMPLIFICATION OF HUMAN POLYMORPHIC SITES IN THE X-CHROMOSOMAL REGION-Q21.33 TO Q24 - DXS17, DXS87, DXS287, AND ALPHA-GALACTOSIDASE-A von KORNREICH, R, ASTRIN, KH, DESNICK, RJ

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Molecular Genetics of Congenital Erythropoietic Porphyria von Desnick, Robert J., Glass, Ian A., Xu, Weiming, Solis, Constanza, Astrin, Kenneth H.

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Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping... von Chen, C H, Astrin, K H, Lee, G, Anderson, K E, Desnick, R J

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Congenital erythropoietic porphyria: advances in pathogenesis and treatment von Dsnick, Robert J., Astrin, Kenneth H.

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Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome von Bishop, David F., Henderson, Ann S., Astrin, Kenneth H.

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Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene von Xu, Weiming, Astrin, Kenneth H., Desnick, Robert J.

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Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis von Darlington, G J, Astrin, K H, Muirhead, S P, Desnick, R J, Smith, M

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Regional Assignment of the Structural Gene for Human α -L-iduronidase von Schuchman, Edward H., Astrin, Kenneth H., Aula, Pertti, Desnick, Robert J.

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Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene von Astrin, Kenneth H., Desnick, Robert J.

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