Concepedia

A large deletion on chromosome 11 in acute intermittent porphyria

Elena Di Pierro, Valeria Besana, Valeria Moriondo, Valentina Brancaleoni, Dario Tavazzi, G. Casalgrandi, Paolo Ventura, Emilio Rocchi, Maria Domenica Cappellini

Blood Cells Molecules and Diseases · 2006 · 10 citations · 10 references

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10

The human gene mutation database

D.N. Cooper · Nucleic Acids Research · 1998 · 612 citations · Full text

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Dynamics of GATA transcription factor expression during erythroid differentiation

Martin O. Leonard, M Brice, JD Engel et al. · Blood · 1993 · 245 citations · Full text

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Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

Shaun S. Abeysinghe, Nadia Chuzhanova, Michael Krawczak et al. · Human Mutation · 2003 · 228 citations

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Tissue‐specific expression of porphobilinogen deaminase

Bernard Grandchamp, Hubert de Verneuil, Carole Beaumont et al. · European Journal of Biochemistry · 1987 · 211 citations · Full text

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Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij

Xiaohua Wu, Jeffrey S. Rush, Denise Karaoglu et al. · Human Mutation · 2003 · 144 citations

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