MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chomosome inactivation pattern

J.B. Nielsen; K.F. Henriksen; C. Hansen; Asli Nilüfer Silahtaroglu; M. Schwartz; Niels Tommerup

MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chomosome inactivation pattern

J.B. Nielsen, K.F. Henriksen, C. Hansen, Asli Nilüfer Silahtaroglu, M. Schwartz, Niels Tommerup

57 Citations (Scopus)

Abstract

Rett syndrome, mutations, MECP2, X-inactivation

Original language	English
Journal	European Journal of Human Genetics
Volume	9
Issue number	3
Pages (from-to)	178-184
ISSN	1018-4813
Publication status	Published - 2001

Cite this

MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chomosome inactivation pattern. / Nielsen, J.B.; Henriksen, K.F.; Hansen, C. et al.

In: European Journal of Human Genetics, Vol. 9, No. 3, 2001, p. 178-184.

Research output: Contribution to journal › Journal article › Research › peer-review

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abstract = "Rett syndrome, mutations, MECP2, X-inactivation",

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AU - Nielsen, J.B.

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AU - Hansen, C.

AU - Silahtaroglu, Asli Nilüfer

AU - Schwartz, M.

AU - Tommerup, Niels

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