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

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	27
Udgave nummer	Suppl. 1
Sider (fra-til)	291-292
Antal sider	2
ISSN	1018-4813
Status	Udgivet - 1 jul. 2019
Begivenhed	51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) - Milano, Italien Varighed: 16 jun. 2018 → 19 jun. 2018 Konferencens nummer: 51 https://2018.eshg.org/

Konference

Konference	51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)
Nummer	51
Land/Område	Italien
By	Milano
Periode	16/06/2018 → 19/06/2018
Internetadresse	https://2018.eshg.org/

Adgang til dokumentet

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

AUB Link

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Citationsformater

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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,

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language = "English",

volume = "27",

pages = "291--292",

journal = "European Journal of Human Genetics",

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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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TY - ABST

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 -