Concepedia

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

Sofia Quental, Sandra Macedo‐Ribeiro, R M Albuquerque de Matos, Laura Vilarinho, Esmeralda Martins, Elisa Leão Teles, Esmeralda Rodrigues, Luísa Diogo, Paula Garcia, Filomena Eusébio,

Molecular Genetics and Metabolism · 2008 · 41 citations · 20 references

DOI

Concepts

References

20

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

Julie Thompson, Desmond G. Higgins, Toby J. Gibson · Nucleic Acids Research · 1994 · 64.9K citations · Full text

, , +14

Prediction of complete gene structures in human genomic DNA

Chris Burge, Samuel Karlin · Journal of Molecular Biology · 1997 · 4.3K citations

, , +16

Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

, , +14

Purification and characterization of branched chain α-keto acid dehydrogenase complex of bovine kidney

Flora H. Pettit, Stephen J. Yeaman, Lester J. Reed · Proceedings of the National Academy of Sciences · 1978 · 282 citations · Full text

, , +17

Maple syrup urine disease (branched-chain ketoaciduria)

Dt Chuang · Medical Entomology and Zoology · 2001 · 242 citations

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