A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

N. Sabherwal; R. J. Blaschke; A. Marchini; D. Heine-Suner; J. Rosell; J. Ferragut; W. F. Blum; G. Rappold

A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

N. Sabherwal, R. J. Blaschke, A. Marchini, D. Heine-Suner, J. Rosell, J. Ferragut, W. F. Blum, G. Rappold

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

Original language	English
Pages (from-to)	e83
Journal	Journal of Medical Genetics
Volume	41
Issue number	6
Publication status	Published - Jun 2004

Cite this

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title = "A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for L{\'e}ri-Weill dyschondrosteosis and Langer dysplasia.",

author = "N. Sabherwal and Blaschke, \{R. J.\} and A. Marchini and D. Heine-Suner and J. Rosell and J. Ferragut and Blum, \{W. F.\} and G. Rappold",

year = "2004",

month = jun,

language = "English",

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pages = "e83",

journal = "Journal of Medical Genetics",

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T1 - A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

AU - Sabherwal, N.

AU - Blaschke, R. J.

AU - Marchini, A.

AU - Heine-Suner, D.

AU - Rosell, J.

AU - Ferragut, J.

AU - Blum, W. F.

AU - Rappold, G.

PY - 2004/6

Y1 - 2004/6

UR - https://www.scopus.com/pages/publications/19444385219

M3 - Article

C2 - 15173249

SN - 1468-6244

VL - 41

SP - e83

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 6

ER -

A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

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