Concepedia

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa

Majdi Nagara, Afaf Tiar, Nizar Ben Halim, Faten Ben Rhouma, Olfa Messaoud, Yosra Bouyacoub, Rym Kéfi, S. Hassayoun, Noura Zouari, Mohamed Slim Ben Ammar,

Gene · 2013 · 22 citations · 23 references

Concepts

Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsEnzyme DeficienciesGenetic DisordersInherited Disease TestingMutation AnalysisRare Disease GeneticsVariant InterpretationDiagnostic Variant InterpretationMutation SpectrumMutation Spectrum Analysis

References

23

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

The history and geography of human genes

Choice Reviews Online · 1995 · 1.3K citations

Life Sciences, Biology, Genetics +12

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

Christopher J. Danpure, Patricia R. Jennings · FEBS Letters · 1986 · 347 citations

Life Sciences, Biochemistry, Biochemical Genetics +16

RECURRENT AND DE NOVO GLOMERULAR DISEASE AFTER RENAL TRANSPLANTATION

Sundaram Hariharan, Mark B. Adams, Daniel C. Brennan et al. · Transplantation · 1999 · 235 citations

Medicine, Nephrology, Surgery +11

Clinical implications of mutation analysis in primary hyperoxaluria type 1

Christiaan S. van Woerden, Jaap W. Groothoff, Frits A. Wijburg et al. · Kidney International · 2004 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12