Concepedia

Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients

Mei Ying Liu, Tze Tze Liu, Yang Ling Yang, Ying-Chen Chang, Ya Ling Fan, Shu Fen Lee, Yu Ting Teng, Szu Hui Chiang, Dau-Ming Niu, Shio-Jean Lin,

JIMD Reports · 2012 · 28 citations · 19 references

DOI

Concepts

References

19

<i>Consed:</i> A Graphical Tool for Sequence Finishing

David Gordon, Chris Abajian, Phil Green · Genome Research · 1998 · 3.3K citations · Full text

, , +17

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

, , +11

ESEfinder: a web resource to identify exonic splicing enhancers

Luca Cartegni · Nucleic Acids Research · 2003 · 1.6K citations · Full text

, , +14

The CpG dinucleotide and human genetic disease

D.N. Cooper, Hagop Youssoufian · Human Genetics · 1988 · 941 citations

, , +14

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

Deborah A. Nickerson · Nucleic Acids Research · 1997 · 938 citations

, , +16