A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. Issue 5 (10th January 2022)

Record Type:: Journal Article
Title:: A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. Issue 5 (10th January 2022)
Main Title:: A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia
Authors:: Yamoto, Kaori
Okada, Satoshi
Kato, Fumiko
Fujisawa, Yasuko
Fukami, Maki
Saitsu, Hirotomo
Ogata, Tsutomu
Abstract:
Is Part Of:: American journal of medical genetics. Volume 188:Issue 5(2022)
Journal:: American journal of medical genetics
Issue:: Volume 188:Issue 5(2022)
Issue Display:: Volume 188, Issue 5 (2022)
Year:: 2022
Volume:: 188
Issue:: 5
Issue Sort Value:: 2022-0188-0005-0000
Page Start:: 1612
Page End:: 1617
Publication Date:: 2022-01-10
Subjects:: Medical genetics -- Periodicals
616.14205
Journal URLs:: http://onlinelibrary.wiley.com/ ↗
DOI:: 10.1002/ajmg.a.62649 ↗
Languages:: English
ISSNs:: 1552-4825
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - 0827.920000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store
Ingest File:: 21252.xml