A large deletion on chromosome 11 in acute intermittent porphyria-Reference-Cited by-同舟云学术

A large deletion on chromosome 11 in acute intermittent porphyria

Published:2006-07 Issue:1 Volume:37 Page:50-54
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

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

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference14 articles.

1. The metabolic and molecular bases of inherited disease;Kappas,1995

2. Acute porphyrias: pathogenesis of neurological manifestations;Meyer,1998

3. Acute intermittent porphyria;Grandchamp,1998

4. Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene;Grandchamp;Eur. J. Biochem.,1987

5. The Human Gene Mutation Database (HGMD), Institute of Medical Genetics in Cardiff, http://archive.uwcm.ac.uk/uwcm/mg/hgmd/search.html. Accessed May 18th, 2006.

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