Concepedia

Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program

Yen-Hui Chiu, Hsiao-Jan Chen, Ying-Chen Chang, Yu-Ning Liu, Shu-Min Kao, Mei‐Ying Liu, Ying-Yen Weng, Kwang-Jen Hsiao, Tze-Tze Liu

Clinica Chimica Acta · 2019 · 13 citations · 28 references

DOI

Concepts

References

28

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

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Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

Sarah E. Flanagan, Ann‐Marie Patch, Sian Ellard · Genetic Testing and Molecular Biomarkers · 2010 · 424 citations

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Glucose-6-phosphate dehydrogenase deficiency: a historical perspective

Ernest Beutler · Blood · 2007 · 357 citations · Full text

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Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia

Kuni Iwai, Akira Hirono, Hiroyuki Matsuoka et al. · Human Genetics · 2001 · 138 citations

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Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays

O Ainoon, Yan Yu, A.L. Amir Muhriz et al. · Human Mutation · 2002 · 103 citations · Full text

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