Inheritance in erythropoietic protoporphyria;La protoporphyrie érythropoïétique: une maladie, deux gènes et trois mécanismes moléculaires

Pathologie Biologie

Volumn 58, Issue 5, 2010, Pages 372-380

  Schmitt, C ^a,b,c   Ducamp, S ^a,b   Gouya, L ^a,b,c   Deybach, J C ^a,b   Puy, H ^a,b  

^a HÔPITAL LOUIS MOURIER   (France)

^b CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

ALA synthase; Dominant inheritance; Erythropoietic protoporphyria; Ferrochelatase; Gain of function; Incomplete penetrance; Recessive inheritance

Indexed keywords

FERROCHELATASE; GENE PRODUCT; HEME; PROTEIN ALAS2; PROTOPORPHYRIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOSYNTHESIS; BONE MARROW DISEASE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROID CELL; ERYTHROPOIETIC PROTOPORPHYRIA; GENE FREQUENCY; HAPLOTYPE; HUMAN; JAPANESE; LIVER DISEASE; NEGRO; PHOTOSENSITIVITY; PHYLOGENY; PLASMA; PREVALENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN; SOMATIC MUTATION;

5-AMINOLEVULINATE SYNTHETASE; AMINO ACID SEQUENCE; CONTINENTAL POPULATION GROUPS; FEMALE; FERROCHELATASE; GENES, DOMINANT; GENES, RECESSIVE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTOPORPHYRIA, ERYTHROPOIETIC; TERMINOLOGY AS TOPIC;

EID: 77957322862     PISSN: 03698114     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.patbio.2010.01.007     Document Type: Article

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