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HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

Year of publication

2022

Authors

Kraatari-Tiri M; Soikkonen L; Myllykoski M; Jamshidi Y; Karimiani EG; Komulainen-Ebrahim J; Kallankari H; Mignot C; Depienne C; Keren B; Nougues M; Alsahlawi Z; Romito A; Martini J; Toosi MB; Carroll CJ; Tripolszki K; Bauer P; Uusimaa J; et al; et al

Organizations and authors

Oulu University Hospital Catchment Area

Rahikkala Elisa

Uusimaa Johanna

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

Clinical Genetics (copenhagen)

Volume

102

Issue

5

Pages

444-450

ISSN

0009-9163

​Publication forum

53581

​Publication forum level

1

Open access

Open access in the publisher’s service

No information

Self-archived

No

Other information

Fields of science

Medical biotechnology

Internationality of the publisher

International

International co-publication

Yes

Co-publication with a company

No

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

Yes