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 Citationer (Scopus)

Abstract

Rett syndrome, mutations, MECP2, X-inactivation

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	9
Udgave nummer	3
Sider (fra-til)	178-184
ISSN	1018-4813
Status	Udgivet - 2001

Citationsformater

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.

I: European Journal of Human Genetics, Bind 9, Nr. 3, 2001, s. 178-184.

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

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

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AU - Nielsen, J.B.

AU - Henriksen, K.F.

AU - Hansen, C.

AU - Silahtaroglu, Asli Nilüfer

AU - Schwartz, M.

AU - Tommerup, Niels

PY - 2001

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AB - Rett syndrome, mutations, MECP2, X-inactivation

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JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

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