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Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

Year of publication

2020

Authors

Carroll, Renee; Shaw, Marie; Arvio, Maria ; Gardner, Alison ; Kumar, Raman; Hodgson, Bree; Heron, Sarah; McKenzie, Fiona; Järvelä, Irma; Gecz, Jozef

Organizations and authors

University of Helsinki

Järvelä Irma

Arvio Maria

Helsinki University Hospital Catchment Area

Järvelä Irma

Arvio Maria

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal

European journal of medical genetics

Parent publication name

European Journal of Medical Genetics

Volume

63

Issue

10

Article number

104010

ISSN

1878-0849

​Publication forum

55753

​Publication forum level

1

Open access

Open access in the publisher’s service

No

Self-archived

No

Other information

Fields of science

Genetics, developmental biology, physiology; Biomedicine

Keywords

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Publication country

France

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1016/j.ejmg.2020.104010

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes