Identification of a Novel Silent Exonic Point Mutation in the NF1 Gene Causing Partial Exon 9 Skipping

A. T. Hoejland; I. Lolas; T. Diemer; H. Okkels; M. B. Petersen

Identification of a Novel Silent Exonic Point Mutation in the NF1 Gene Causing Partial Exon 9 Skipping

A. T. Hoejland, I. Lolas, T. Diemer, H. Okkels, M. B. Petersen

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

Original language	English
Journal	European Journal of Human Genetics
Volume	27
Issue number	Suppl. 1
Pages (from-to)	291-292
Number of pages	2
ISSN	1018-4813
Publication status	Published - 1 Jul 2019
Event	51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) - Milano, Italy Duration: 16 Jun 2018 → 19 Jun 2018 Conference number: 51 https://2018.eshg.org/

Conference

Conference	51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)
Number	51
Country/Territory	Italy
City	Milano
Period	16/06/2018 → 19/06/2018
Internet address	https://2018.eshg.org/

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https://www.nature.com/articles/s41431-019-0404-7

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Cite this

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title = "Identification of a Novel Silent Exonic Point Mutation in the NF1 Gene Causing Partial Exon 9 Skipping",

author = "Hoejland, {A. T.} and I. Lolas and T. Diemer and H. Okkels and Petersen, {M. B.}",

year = "2019",

month = jul,

day = "1",

language = "English",

volume = "27",

pages = "291--292",

journal = "European Journal of Human Genetics",

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publisher = "Nature Publishing Group",

number = "Suppl. 1",

note = "51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) ; Conference date: 16-06-2018 Through 19-06-2018",

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T1 - Identification of a Novel Silent Exonic Point Mutation in the NF1 Gene Causing Partial Exon 9 Skipping

AU - Hoejland, A. T.

AU - Lolas, I.

AU - Diemer, T.

AU - Okkels, H.

AU - Petersen, M. B.

N1 - Conference code: 51

PY - 2019/7/1

Y1 - 2019/7/1

M3 - Conference abstract in journal

SN - 1018-4813

VL - 27

SP - 291

EP - 292

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl. 1

T2 - 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)

Y2 - 16 June 2018 through 19 June 2018

ER -