Concepedia

Functional Consequences of PRODH Missense Mutations

Hans‐Ulrich Bender, Shlomo Almashanu, Gary Steel, Chien-an A. Hu, Wei‐Wen Lin, Alecia Willis, Ann E. Pulver, David Valle

The American Journal of Human Genetics · 2005 · 152 citations · 57 references

Open access

Concepts

Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsGenetic DisordersInborn Errors Of MetabolismMetabolic Pathway DefectsMutation ScreeningRare Disease GeneticsRare Disease GenomicsLoss-of-function MutationsLoss-of-function Variant AnalysisMissense MutationsMissense Variant InterpretationPoint Mutation Effects

References

57

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Life Sciences, Genetics, Molecular Genetics +13

A model for p53-induced apoptosis

Kornélia Polyák, Yong Xia, Jay L. Zweíer et al. · Nature · 1997 · 2.5K citations

Life Sciences, Cell Biology, Molecular Biology +12

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

The Metabolic Basis of Inherited Disease

Lawrence M. Solomon · Journal of Investigative Dermatology · 1979 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +13