A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome. Issue 4 (4th October 2017)

Record Type:: Journal Article
Title:: A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome. Issue 4 (4th October 2017)
Main Title:: A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome
Authors:: Miyake, N.
Ozasa, S.
Mabe, H.
Kimura, S.
Shiina, M.
Imagawa, E.
Miyatake, S.
Nakashima, M.
Mizuguchi, T.
Takata, A.
Ogata, K.
Matsumoto, N.
Abstract:: Abstract : A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1
Is Part Of:: Clinical genetics. Volume 93:Issue 4(2018)
Journal:: Clinical genetics
Issue:: Volume 93:Issue 4(2018)
Issue Display:: Volume 93, Issue 4 (2018)
Year:: 2018
Volume:: 93
Issue:: 4
Issue Sort Value:: 2018-0093-0004-0000
Page Start:: 929
Page End:: 930
Publication Date:: 2017-10-04
Subjects:: Medical genetics -- Periodicals
616.0420
Journal URLs:: http://www.blackwell-synergy.com/loi/cge ↗
http://onlinelibrary.wiley.com/ ↗
DOI:: 10.1111/cge.13105 ↗
Languages:: English
ISSNs:: 0009-9163
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - 3286.287000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store
Ingest File:: 6174.xml