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Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.

LUPI, ANNA LISA;DELLA TORRE, SARA;ROSSI, ANTONIO;CAMPARI, ELENA;CETTA, GIUSEPPE;FORLINO, ANTONELLA
2004-01-01
2004
Biochemistry & Biophysics focuses on the structure and chemistry of biomolecules and covers all aspects of basic biochemistry/biophysics, including molecular structure, enzyme kinetics and protein-protein interaction; this category also contains cross-disciplinary resources focused on a specific class of biological molecules, e.g., nucleic acids, steroids, magnesium, growth factors, free radicals, bio-membranes, and peptides. Excluded are resources dealing with the application of biochemical techniques to specific topics listed elsewhere in CC/LS. Resources with a strong emphasis on the integration of biochemical pathways (such as signal transduction or molecular motors) at the cellular level are placed in the Cell & Developmental Biology category.
JOURNAL OF HUMAN GENETICS
sì
WOS:000224055000007
2-s2.0-4744341131
Sì, ma tipo non specificato
Inglese
Internazionale
STAMPA
49
9
500
506
15309682
Prolidase; Prolidase Deficiency; Molecular characterization; biochemical characterization
8
info:eu-repo/semantics/article
262
Lupi, ANNA LISA; De Riso, A; DELLA TORRE, Sara; Rossi, Antonio; Campari, Elena; Vilarinho, L; Cetta, Giuseppe; Forlino, Antonella
1 Contributo su Rivista::1.1 Articolo in rivista
none
1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/115128
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