Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18. Issue 5 (25th August 2021)

Record Type:
Journal Article
Title:
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18. Issue 5 (25th August 2021)
Main Title:
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18
Authors:
Hadouiri, Nawale
Thomas, Quentin
Darmency, Véronique
Dulieu, Véronique
De Rougemont, Marie‐Gabrielle Mourot
Bruel, Ange‐Line
Duffourd, Yannis
Lecoquierre, François
Colomb, Benoit
Perez‐Martin, Stéphanie
Ornetti, Paul
Blanchard, Olivier
Sorlin, Arthur
Philippe, Christophe
Faivre, Laurence
Vitobello, Antonio
Thauvin‐Robinet, Christel
Abstract:
Is Part Of:
Clinical genetics. Volume 100:Issue 5(2021)
Journal:
Clinical genetics
Issue:
Volume 100:Issue 5(2021)
Issue Display:
Volume 100, Issue 5 (2021)
Year:
2021
Volume:
100
Issue:
5
Issue Sort Value:
2021-0100-0005-0000
Page Start:
643
Page End:
644
Publication Date:
2021-08-25
Subjects:
Medical genetics -- Periodicals
616.0420
Journal URLs:
http://www.blackwell-synergy.com/loi/cge ↗
http://onlinelibrary.wiley.com/ ↗
DOI:
10.1111/cge.14045 ↗
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:
19367.xml