Role of genetic testing in the management of patients with inherited porphyria and their families

Annals of Clinical Biochemistry

Volumn 50, Issue 3, 2013, Pages 204-216

  Whatley, S D ^a   Badminton, M N ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHLOROQUINE; FERROCHELATASE; PORPHOBILINOGEN SYNTHASE;

ACUTE DISEASE; ALAS1 GENE; ALAS2 GENE; ALLELE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; COPROPORPHYRIA; CPOX GENE; DNA DETERMINATION; GENE; GENE EXPRESSION; GENE INACTIVATION; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEPATOERYTHROPOIETIC PORPHYRIA; HMBS GENE; HUMAN; LOW DRUG DOSE; PHLEBOTOMY; POINT MUTATION; POLYMERASE CHAIN REACTION; PORPHYRIA; PORPHYRIA CUTANEA TARDA; PORPHYRIA VARIEGATA; PPOX GENE; PRIORITY JOURNAL; REVIEW; UROD GENE; UROS GENE;

EID: 84879426879     PISSN: 00045632     EISSN: 17581001     Source Type: Journal    
DOI: 10.1177/0004563212473278     Document Type: Review

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