Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis; Michael Ashburner; Arleen D. Auerbach; Arthur L. Beaudet; Jacques S. Beckmann; Ernest Beutler; David N. Cooper; Richard G.H. Cotton; Johan T. Den Dunnen; Robert J. Desnick; Charis Eng; Kenneth H. Fasman; David Goldman; Kenshi Hayashi; Franklin Hutchinson; Haig H. Kazazian; Jeffrey Keen; Mary Claire King; Heikki Lehvaslaiho; Phyllis J. McAlpine; Victor McKusick; Arno G. Motulski; Sue Povey; Daniel F. Schorderet; Charles R. Scriver; Thomas B. Shows; Andrea Supertifurga; Agnes H.N. Tay; Lap Chee Tsui; David Valle; Mauno Vihinen

doi:10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis, Michael Ashburner, Arleen D. Auerbach, Arthur L. Beaudet, Jacques S. Beckmann, Ernest Beutler, David N. Cooper, Richard G.H. Cotton, Johan T. Den Dunnen, Robert J. Desnick, Charis Eng, Kenneth H. Fasman, David Goldman, Kenshi Hayashi, Franklin Hutchinson, Haig H. Kazazian, Jeffrey Keen, Mary Claire King, Heikki Lehvaslaiho, Phyllis J. McAlpineVictor McKusick, Arno G. Motulski, Sue Povey, Daniel F. Schorderet, Charles R. Scriver, Thomas B. Shows, Andrea Supertifurga, Agnes H.N. Tay, Lap Chee Tsui, David Valle, Mauno Vihinen

Johns Hopkins Hospital

Research output: Contribution to journal › Article › peer-review

826 Scopus citations

Original language	English (US)
Pages (from-to)	1-3
Number of pages	3
Journal	Human mutation
Volume	11
Issue number	1
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O
State	Published - 1998

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O

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Antonarakis, S. E., Ashburner, M., Auerbach, A. D., Beaudet, A. L., Beckmann, J. S., Beutler, E., Cooper, D. N., Cotton, R. G. H., Den Dunnen, J. T., Desnick, R. J., Eng, C., Fasman, K. H., Goldman, D., Hayashi, K., Hutchinson, F., Kazazian, H. H., Keen, J., King, M. C., Lehvaslaiho, H., ... Vihinen, M. (1998). Recommendations for a nomenclature system for human gene mutations. Human mutation, 11(1), 1-3. https://doi.org/10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O

Antonarakis, SE, Ashburner, M, Auerbach, AD, Beaudet, AL, Beckmann, JS, Beutler, E, Cooper, DN, Cotton, RGH, Den Dunnen, JT, Desnick, RJ, Eng, C, Fasman, KH, Goldman, D, Hayashi, K, Hutchinson, F, Kazazian, HH, Keen, J, King, MC, Lehvaslaiho, H, McAlpine, PJ, McKusick, V, Motulski, AG, Povey, S, Schorderet, DF, Scriver, CR, Shows, TB, Supertifurga, A, Tay, AHN, Tsui, LC, Valle, D & Vihinen, M 1998, 'Recommendations for a nomenclature system for human gene mutations', Human mutation, vol. 11, no. 1, pp. 1-3. https://doi.org/10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O

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title = "Recommendations for a nomenclature system for human gene mutations",

author = "Antonarakis, {Stylianos E.} and Michael Ashburner and Auerbach, {Arleen D.} and Beaudet, {Arthur L.} and Beckmann, {Jacques S.} and Ernest Beutler and Cooper, {David N.} and Cotton, {Richard G.H.} and {Den Dunnen}, {Johan T.} and Desnick, {Robert J.} and Charis Eng and Fasman, {Kenneth H.} and David Goldman and Kenshi Hayashi and Franklin Hutchinson and Kazazian, {Haig H.} and Jeffrey Keen and King, {Mary Claire} and Heikki Lehvaslaiho and McAlpine, {Phyllis J.} and Victor McKusick and Motulski, {Arno G.} and Sue Povey and Schorderet, {Daniel F.} and Scriver, {Charles R.} and Shows, {Thomas B.} and Andrea Supertifurga and Tay, {Agnes H.N.} and Tsui, {Lap Chee} and David Valle and Mauno Vihinen",

year = "1998",

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T1 - Recommendations for a nomenclature system for human gene mutations

AU - Antonarakis, Stylianos E.

AU - Ashburner, Michael

AU - Auerbach, Arleen D.

AU - Beaudet, Arthur L.

AU - Beckmann, Jacques S.

AU - Beutler, Ernest

AU - Cooper, David N.

AU - Cotton, Richard G.H.

AU - Den Dunnen, Johan T.

AU - Desnick, Robert J.

AU - Eng, Charis

AU - Fasman, Kenneth H.

AU - Goldman, David

AU - Hayashi, Kenshi

AU - Hutchinson, Franklin

AU - Kazazian, Haig H.

AU - Keen, Jeffrey

AU - King, Mary Claire

AU - Lehvaslaiho, Heikki

AU - McAlpine, Phyllis J.

AU - McKusick, Victor

AU - Motulski, Arno G.

AU - Povey, Sue

AU - Schorderet, Daniel F.

AU - Scriver, Charles R.

AU - Shows, Thomas B.

AU - Supertifurga, Andrea

AU - Tay, Agnes H.N.

AU - Tsui, Lap Chee

AU - Valle, David

AU - Vihinen, Mauno

PY - 1998

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Recommendations for a nomenclature system for human gene mutations

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