Normal view MARC view ISBD view

Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.

Isik, Esra

Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping. [electronic resource] - European journal of medical genetics Sep 2019 - 103544 p. digital

Publication Type: Case Reports; Journal Article

ISSN: 1878-0849

Standard No.: 10.1016/j.ejmg.2018.09.011 doi

Subjects--Topical Terms:
Alleles
Arthrogryposis--genetics
Codon, Nonsense
Genetic Testing--methods
Humans
Infant
Male
Molecular Chaperones--genetics
Penetrance
Exome Sequencing

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)