A “null allele” mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters-Reference-Cited by-同舟云学术

A “null allele” mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters

Published:2003-05 Issue:3 Volume:30 Page:298-301
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Schoenfeld Nili,Mamet Rivka,Minder Elisabeth I,Schneider-Yin Xiaoye

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference13 articles.

1. The porphyrias;Anderson,2001

2. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH;Gouya;Nature Genet.,2002

3. Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation;Bloomer;J. Clin. Invest.,1998

4. Human gene mutation database. Institute of Medical Genetics, Cardiff, Wales, United Kingdom, 2001. http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html

5. New insights into the pathogenesis of erythropoietic protoporphyria and their impacts on patient care;Schneider-Yin;Eur. J. Pediatr.,2000

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4. Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden;Journal of Internal Medicine;2010-11-14

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