In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

J. Trip; G. Drost; D.J. Verbove; A.J. van der Kooi; J.B.M. Kuks; N.C. Notermans; J.J. Verschuuren; M. de Visser; B.G. van Engelen; C.G. Faber; I.B. Ginjaar

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Translated title of the contribution: In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

J. Trip
, G. Drost
, D.J. Verbove
, A.J. van der Kooi
, J.B.M. Kuks
, N.C. Notermans
, J.J. Verschuuren
, M. de Visser
, B.G. van Engelen
, C.G. Faber
, I.B. Ginjaar

Neurology & Neurosurgery

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

Translated title of the contribution	In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
Original language	Undefined/Unknown
Pages (from-to)	921-929
Number of pages	9
Journal	European Journal of Human Genetics
Volume	16
Issue number	8
Publication status	Published - 2008

Cite this

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title = "In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.",

author = "J. Trip and G. Drost and D.J. Verbove and \{van der Kooi\}, A.J. and J.B.M. Kuks and N.C. Notermans and J.J. Verschuuren and \{de Visser\}, M. and \{van Engelen\}, B.G. and C.G. Faber and I.B. Ginjaar",

year = "2008",

language = "Undefined/Unknown",

volume = "16",

pages = "921--929",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "8",

}

TY - JOUR

T1 - In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

AU - Trip, J.

AU - Drost, G.

AU - Verbove, D.J.

AU - van der Kooi, A.J.

AU - Kuks, J.B.M.

AU - Notermans, N.C.

AU - Verschuuren, J.J.

AU - de Visser, M.

AU - van Engelen, B.G.

AU - Faber, C.G.

AU - Ginjaar, I.B.

PY - 2008

Y1 - 2008

M3 - Article

SN - 1018-4813

VL - 16

SP - 921

EP - 929

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 8

ER -