Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Schneider Yin, X ^a   Mamet, R ^b   Minder, E I ^a   Schoenfeld, N ^b,c  

^a Zentrallabor   (Switzerland)

^b RABIN MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; FERROCHELATASE; PROTOPORPHYRIN;

ADOLESCENT; ADULT; ARTICLE; BLOOD; CONGENITAL ERYTHROPOIETIC PORPHYRIA; ENZYMOLOGY; ERYTHROCYTE; ETHNOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HUMAN; JEW; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PHOTOSENSITIVITY DISORDER; PROGNOSIS;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; DNA MUTATIONAL ANALYSIS; ERYTHROCYTES; FEMALE; FERROCHELATASE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HUMANS; JEWS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PHOTOSENSITIVITY DISORDERS; PORPHYRIA, ERYTHROPOIETIC; PROGNOSIS; PROTOPORPHYRINS; YOUNG ADULT;

EID: 84855582928     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0924-8     Document Type: Article

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