Normal view MARC view ISBD view

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.

Masingue, Marion

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect. [electronic resource] - Neuromuscular disorders : NMD 01 2019 - 75-79 p. digital

Publication Type: Case Reports; Journal Article

ISSN: 1873-2364

Standard No.: 10.1016/j.nmd.2018.10.005 doi

Subjects--Topical Terms:
Arthrogryposis--genetics
Codon, Nonsense
Female
Humans
Ion Channels--genetics
Pedigree
Phenotype
Scoliosis--genetics
Siblings
Somatosensory Disorders--genetics
Young Adult

Print
Cite
Add to your cart (remove)
Save record
BIBTEX Dublin Core MARCXML MARC (non-Unicode/MARC-8) MARC (Unicode/UTF-8) MARC (Unicode/UTF-8, Standard) MODS (XML) RIS ISBD
More searches

Search for this title in:
Other Libraries (WorldCat) Other Databases (Google Scholar) Online Stores (Bookfinder.com) Open Library (openlibrary.org)