Concepedia

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination

Ching‐Shiang Chi, Chi‐Ren Tsai, Lianghui Chen, Hsiu-Fen Lee, Betty Suk-Chun Mak, Shu-Hsuang Yang, Tsai-Yuh Wang, San‐Ging Shu, Chao‐Hui Chen

European Journal of Human Genetics · 2003 · 18 citations · 22 references

DOI

Concepts

References

22

The metabolic and molecular bases of inherited disease

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

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A NEW SYNDROME: PROGRESSIVE FAMILIAL INFANTILE CEREBRAL DYSFUNCTION ASSOCIATED WITH AN UNUSUAL URINARY SUBSTANCE

John H. Menkes, Peter L. Hurst, John M. Craig · PEDIATRICS · 1954 · 411 citations

, , +8

Nucleotide sequence preference at rat liver and wheat germ type 1 DNA topoisomerase breakage sites in duplex SV40 DNA

Michael D. Been, Richard R. Burgess, James J. Champoux · Nucleic Acids Research · 1984 · 207 citations · Full text

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Dysfunction of chromosomal loop attachment sites: illegitimate recombination linked to matrix association regions and topoisomerase II.

Ann O. Sperry, Veronica Blasquez, William T. Garrard · Proceedings of the National Academy of Sciences · 1989 · 203 citations · Full text

, , +11

One short well conserved region of<i>Alu</i>-sequences is involved in human gene rearrangements and has homology with prokaryotic<i>chi</i>

N. Rüdiger, Niels Gregersen, Morten C. Kielland‐Brandt · Nucleic Acids Research · 1995 · 198 citations · Full text

, , +9