Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC

Clin Chem. 2001 Feb;47(2):343-6.

Authors

C W Lam¹, P M Poon, S F Tong, A W Lo, C K Lai, K L Choi, S C Tiu, Y W Chan, C C Shek

Affiliation

¹ Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. [email protected]

PMID: 11159788

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Chromatography, High Pressure Liquid
Female
Humans
Hydroxymethylbilane Synthase / genetics*
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Porphyria, Acute Intermittent / genetics*

Substances

Hydroxymethylbilane Synthase