Monogenic traits are not simple: lessons from phenylketonuria
- 1 July 1999
- journal article
- review article
- Published by Elsevier BV in Trends in Genetics
- Vol. 15 (7), 267-272
- https://doi.org/10.1016/s0168-9525(99)01761-8
Abstract
No abstract availableKeywords
This publication has 48 references indexed in Scilit:
- Genome cross-referencing and XREFdb: Implications for the identification and analysis of genes mutated in human diseaseNature Genetics, 1997
- Degradation of a Mutant Secretory Protein, α1-Antitrypsin Z, in the Endoplasmic Reticulum Requires Proteasome ActivityPublished by Elsevier BV ,1996
- Complexity in a monogenic diseaseNature Genetics, 1996
- Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseasesHuman Mutation, 1996
- A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.Proceedings of the National Academy of Sciences of the United States of America, 1994
- Phenotypic diversity, allelic series and modifier genesNature Genetics, 1994
- The rapid detection of unknown mutations in nucleic acidsNature Genetics, 1993
- Current methods of mutation detectionMutation Research - Reviews in Mutation Research, 1993
- Phenylketonuria – Genotypes and PhenotypesThe New England Journal of Medicine, 1991
- Molecular Basis of Phenotypic Heterogeneity in PhenylketonuriaThe New England Journal of Medicine, 1991