Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

H.G Nothwang; H.G. Kim; J. Aoki; M. Geisterfer; S. Kübart; R.D. Wegner; A. van Moers; L.K. Ashworth; T. Haaf; J.E. Bell; H. Arai; Niels Tommerup; H.H Ropers; J. Wirth

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

H.G Nothwang, H.G. Kim, J. Aoki, M. Geisterfer, S. Kübart, R.D. Wegner, A. van Moers, L.K. Ashworth, T. Haaf, J.E. Bell, H. Arai, Niels Tommerup, H.H Ropers, J. Wirth

40 Citations (Scopus)

Original language	English
Journal	Human Molecular Genetics
Volume	10
Issue number	8
Pages (from-to)	797-806
ISSN	0964-6906
Publication status	Published - 2001

Cite this

Nothwang, H. G., Kim, H. G., Aoki, J., Geisterfer, M., Kübart, S., Wegner, R. D., van Moers, A., Ashworth, L. K., Haaf, T., Bell, J. E., Arai, H., Tommerup, N., Ropers, H. H., & Wirth, J. (2001). Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. Human Molecular Genetics, 10(8), 797-806.

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title = "Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain",

author = "H.G Nothwang and H.G. Kim and J. Aoki and M. Geisterfer and S. K{\"u}bart and R.D. Wegner and {van Moers}, A. and L.K. Ashworth and T. Haaf and J.E. Bell and H. Arai and Niels Tommerup and H.H Ropers and J. Wirth",

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language = "English",

volume = "10",

pages = "797--806",

journal = "Human Molecular Genetics",

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T1 - Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

AU - Nothwang, H.G

AU - Kim, H.G.

AU - Aoki, J.

AU - Geisterfer, M.

AU - Kübart, S.

AU - Wegner, R.D.

AU - van Moers, A.

AU - Ashworth, L.K.

AU - Haaf, T.

AU - Bell, J.E.

AU - Arai, H.

AU - Tommerup, Niels

AU - Ropers, H.H

AU - Wirth, J.

PY - 2001

Y1 - 2001

M3 - Journal article

SN - 0964-6906

VL - 10

SP - 797

EP - 806

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 8

ER -