Molecular genetics of disorders of haem biosynthesis.
- 1 November 1993
- journal article
- review article
- Published by BMJ in Journal of Clinical Pathology
- Vol. 46 (11) , 977-981
- https://doi.org/10.1136/jcp.46.11.977
Abstract
No abstract availableThis publication has 64 references indexed in Scilit:
- Regulation by Heme of Mitochondrial Protein Transport Through a Conserved Amino Acid MotifScience, 1993
- Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemiaHuman Molecular Genetics, 1992
- Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase geneBiochemical and Biophysical Research Communications, 1991
- Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2?q26.3Human Genetics, 1991
- Molecular cloning and sequence analysis of cDNA encoding human ferrochelataseBiochemical and Biophysical Research Communications, 1990
- Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.Journal of Clinical Investigation, 1990
- Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneityBritish Journal of Dermatology, 1990
- NEW DUAL FORM OF PORPHYRIAThe Lancet, 1988
- DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIAThe Lancet, 1987
- Uroporphyrinogen Decarboxylase Structural Mutant (Gly281→Glu) in a Case of PorphyriaScience, 1986