Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founder of the common G111R mutation
Author:
Affiliation:
1. Department of Human Genetics, Mount Sinai School of Medicine, New York, New York
2. Centro de Investigaciones sobre Porfirinas y Porfirias, University of Buenos Aires, Buenos Aires, Argentina
Publisher
Wiley
Subject
Genetics (clinical)
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/%28SICI%291096-8628%2819991008%2986%3A4%3C366%3A%3AAID-AJMG11%3E3.0.CO%3B2-%23
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1. Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines
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3. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
4. A simple method for measuring erythrocyte porphobilinogenase, and its use in the diagnosis of acute intermittent porphyria
5. Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: A Bayesian approach
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