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Solis, C
Aizencang, GI
Astrin, KH
Bishop, DF
Desnick, R
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Authors:
Ramdall, RB
Cunha, L
Astrin, KH
Katz, DR
Anderson, KE
Glucksman, M
Bottomley, SS
Desnick, RJ
Citation: Rb. Ramdall et al., Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene, GENET MED, 2(5), 2000, pp. 290-295
Authors:
Ashton-Prolla, P
Tong, BZ
Shabbeer, J
Astrin, KH
Eng, CM
Desnick, RJ
Citation: P. Ashton-prolla et al., Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes, J INVES MED, 48(4), 2000, pp. 227-235
Authors:
Aizencang, GI
Bishop, DF
Forrest, D
Astrin, KH
Desnick, RJ
Citation: Gi. Aizencang et al., Uroporphyrinogen III synthase - An alternative promoter controls erythroid-specific expression in the murine gene, J BIOL CHEM, 275(4), 2000, pp. 2295-2304
Authors:
Solis, C
Lopez-Echaniz, I
Sefarty-Graneda, D
Astrin, KH
Desnick, RJ
Citation: C. Solis et al., Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP), MOL MED, 5(10), 1999, pp. 664-671
Authors:
De Siervi, A
Rossetti, MV
Parera, VE
Astrin, KH
Aizencang, GI
Glass, IA
Batlle, AMD
Desnick, RJ
Citation: A. De Siervi et al., Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founderof the common G111R mutation, AM J MED G, 86(4), 1999, pp. 366-375