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

Blood Cells, Molecules, and Diseases

Volumn 30, Issue 3, 2003, Pages 298-301

  Schoenfeld, Nili ^a,b   Mamet, Rivka ^a   Minder, Elisabeth I ^c   Schneider Yin, Xiaoye ^c  

^a RABIN MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c TRIEMLI HOSPITAL   (Switzerland)

Author keywords

Erythropoietic protoporphyria; FECH mutation; Liver complication; Null allele mutation

Indexed keywords

FERROCHELATASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE ASSOCIATION; ERYTHROPOIETIC PROTOPORPHYRIA; EXON; GENE DELETION; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; ISRAEL; LIVER FAILURE; LIVER TRANSPLANTATION; MALE; NULL ALLELE; PRIORITY JOURNAL; RNA SPLICING; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 0038299947     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1079-9796(03)00040-8     Document Type: Article

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