A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment

Nanna Dahl Rendtorff; M. Zhu; T. Fagerheim; T.L. Antal; M. Jones; T.M. Teslovich; E.M. Gillanders; M. Barmada; E. Teig; J.M. Trent; K.H. Friderici; D.A. Stephan; Lisbeth Tranebjærg

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment

Nanna Dahl Rendtorff, M. Zhu, T. Fagerheim, T.L. Antal, M. Jones, T.M. Teslovich, E.M. Gillanders, M. Barmada, E. Teig, J.M. Trent, K.H. Friderici, D.A. Stephan, Lisbeth Tranebjærg

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

50 Citationer (Scopus)

Abstract

Udgivelsesdato: 2006/10

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	14
Udgave nummer	10
Sider (fra-til)	1097-1105
Antal sider	8
ISSN	1018-4813
Status	Udgivet - 2006

Citationsformater

Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A., & Tranebjærg, L. (2006). A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. European Journal of Human Genetics, 14(10), 1097-1105.

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. / Rendtorff, Nanna Dahl; Zhu, M.; Fagerheim, T. et al.
I: European Journal of Human Genetics, Bind 14, Nr. 10, 2006, s. 1097-1105.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Rendtorff, ND, Zhu, M, Fagerheim, T, Antal, TL, Jones, M, Teslovich, TM, Gillanders, EM, Barmada, M, Teig, E, Trent, JM, Friderici, KH, Stephan, DA & Tranebjærg, L 2006, 'A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment', European Journal of Human Genetics, bind 14, nr. 10, s. 1097-1105.

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title = "A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment",

abstract = "Udgivelsesdato: 2006/10",

author = "Rendtorff, {Nanna Dahl} and M. Zhu and T. Fagerheim and T.L. Antal and M. Jones and T.M. Teslovich and E.M. Gillanders and M. Barmada and E. Teig and J.M. Trent and K.H. Friderici and D.A. Stephan and Lisbeth Tranebj{\ae}rg",

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T1 - A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment

AU - Rendtorff, Nanna Dahl

AU - Zhu, M.

AU - Fagerheim, T.

AU - Antal, T.L.

AU - Jones, M.

AU - Teslovich, T.M.

AU - Gillanders, E.M.

AU - Barmada, M.

AU - Teig, E.

AU - Trent, J.M.

AU - Friderici, K.H.

AU - Stephan, D.A.

AU - Tranebjærg, Lisbeth

PY - 2006

Y1 - 2006

N2 - Udgivelsesdato: 2006/10

AB - Udgivelsesdato: 2006/10

M3 - Journal article

SN - 1018-4813

VL - 14

SP - 1097

EP - 1105

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -