X. Wang

GNB3 gene C825T and ACE gene I/D polymorphisms in essential hypertension in a Kazakh genetic isolate

J. Ding, H. Wen, G. Wu, 2004, Journal of Human Hypertension.

Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene.

A. Christiano, S. Piomelli, M. Poh-Fitzpatrick, 1997, The Journal of investigative dermatology.

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

J. Frank, H. Lam, H. Merk, 1998, Annals of human genetics.

Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene.

K. Malavade, S. Piomelli, M. Poh-Fitzpatrick, 1995, Biochimica et biophysica acta.

A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.

S. Piomelli, M. Poh-Fitzpatrick, X. Wang, 1994, Biochimica et biophysica acta.

A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.

S. Piomelli, M. Poh-Fitzpatrick, S. Taketani, 1993, Biochimica et biophysica acta.

Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene.

J. Bloomer, M. Poh-Fitzpatrick, V. Deleo, 1999, The Journal of investigative dermatology.

Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria.

S. Piomelli, M. Poh-Fitzpatrick, S. Taketani, 1994, Biochimica et biophysica acta.

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

A. Christiano, W. Ahmad, M. Poh-Fitzpatrick, 1999, Journal of investigative medicine : the official publication of the American Federation for Clinical Research.

Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria.

X. Wang, 1996, Biochimica et biophysica acta.

Human protoporphyria: genetic heterogeneity at the ferrochelatase locus

S. Piomelli, X. Wang, L. T. Ostasiewicz, 1995, Photodermatology, photoimmunology & photomedicine.

Dysregulation of neuroproteasomes by ApoE isoforms drives endogenous Tau aggregation

B. Hyman, Jun Fu, Tal Nuriel, 2023, bioRxiv.