High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.

J. Kohlhase; M. Liebers; J. Backe; A. Baumann-Müller; M. Bembea; A. Destrée; M. Gattas; S. Grüssner; T. Müller; G. Mortier; C. Skrypnyk; S. Yano; J. Wirbelauer; R. C. Michaelis

doi:10.1136/jmg.40.11.e127

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.

J. Kohlhase
, M. Liebers
, J. Backe
, A. Baumann-Müller
, M. Bembea
, A. Destrée
, M. Gattas
, S. Grüssner
, T. Müller
, G. Mortier
, C. Skrypnyk
, S. Yano
, J. Wirbelauer
, R. C. Michaelis

Biology

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

27 Scopus citations

Original language	English
Pages (from-to)	e127
Journal	Journal of medical genetics
Volume	40
Issue number	11
DOIs	https://doi.org/10.1136/jmg.40.11.e127
State	Published - Nov 2003

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Kohlhase, J., Liebers, M., Backe, J., Baumann-Müller, A., Bembea, M., Destrée, A., Gattas, M., Grüssner, S., Müller, T., Mortier, G., Skrypnyk, C., Yano, S., Wirbelauer, J., & Michaelis, R. C. (2003). High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. Journal of medical genetics, 40(11), e127. https://doi.org/10.1136/jmg.40.11.e127

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title = "High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.",

author = "J. Kohlhase and M. Liebers and J. Backe and A. Baumann-M{\"u}ller and M. Bembea and A. Destr{\'e}e and M. Gattas and S. Gr{\"u}ssner and T. M{\"u}ller and G. Mortier and C. Skrypnyk and S. Yano and J. Wirbelauer and Michaelis, \{R. C.\}",

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Kohlhase, J, Liebers, M, Backe, J, Baumann-Müller, A, Bembea, M, Destrée, A, Gattas, M, Grüssner, S, Müller, T, Mortier, G, Skrypnyk, C, Yano, S, Wirbelauer, J & Michaelis, RC 2003, 'High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.', Journal of medical genetics, vol. 40, no. 11, pp. e127. https://doi.org/10.1136/jmg.40.11.e127

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T1 - High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.

AU - Kohlhase, J.

AU - Liebers, M.

AU - Backe, J.

AU - Baumann-Müller, A.

AU - Bembea, M.

AU - Destrée, A.

AU - Gattas, M.

AU - Grüssner, S.

AU - Müller, T.

AU - Mortier, G.

AU - Skrypnyk, C.

AU - Yano, S.

AU - Wirbelauer, J.

AU - Michaelis, R. C.

PY - 2003/11

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AN - SCOPUS:1542753495

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VL - 40

SP - e127

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 11

ER -

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.

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