Concepedia

Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

Peter A. J. Leegwater, Bao Qiang Yuan, J. Van der Steen, Joyce Mulders, Andrea A.M. Könst, P. K. Ilja Boor, Vlatka Mejaški‐Bošnjak, Silvère M. van der Maarel, Rune R. Frants, Cees B.M. Oudejans,

The American Journal of Human Genetics · 2001 · 269 citations · 16 references

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16

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations

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Tmbase-A database of membrane spanning protein segments

Kay Hofmann, W Stoffel · Medical Entomology and Zoology · 1993 · 2.3K citations

, , +14

The DNA sequence of human chromosome 21

Masahira Hattori, Asao Fujiyama, Todd D. Taylor et al. · Nature · 2000 · 1.5K citations · Full text

, , +12

The DNA sequence of human chromosome 22

Ian Dunham, Adrienne Hunt, John Collins et al. · Nature · 1999 · 1.2K citations · Full text

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

Michael Krawczak, D.N. Cooper · Human Genetics · 1991 · 486 citations · Full text

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