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References

These sources were used to develop the Genetics Home Reference gene summary on the HMBS gene.

Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005;28(3):277-86. Review. PubMed citation
Elder GH. Genetic defects in the porphyrias: types and significance. Clin Dermatol. 1998 Mar-Apr;16(2):225-33. Review. PubMed citation
Entrez Gene
Hrdinka M, Puy H, Martasek P. May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population. Physiol Res. 2006;55 Suppl 2:S119-36. Review. PubMed citation
Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. Review. PubMed citation
Sassa S, Kappas A. Molecular aspects of the inherited porphyrias. J Intern Med. 2000 Feb;247(2):169-78. Review. PubMed citation
Tjensvoll K, Bruland O, Floderus Y, Skadberg Ų, Sandberg S, Apold J. Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. Dis Markers. 2003-2004;19(1):41-6. PubMed citation
Whatley SD, Roberts AG, Llewellyn DH, Bennett CP, Garrett C, Elder GH. Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Hum Genet. 2000 Sep;107(3):243-8. PubMed citation
Yang CC, Kuo HC, You HL, Wang J, Huang CC, Liu CY, Lan MY, Stephenson DA, Lee MJ. HMBS mutations in Chinese patients with acute intermittent porphyria. Ann Hum Genet. 2008 Sep;72(Pt 5):683-6. doi: 10.1111/j.1469-1809.2008.00463.x. PubMed citation


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