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P335: Distinct clinical presentations of affected siblings with acute intermittent porphyria caused by a common pathogenic variant in HMBS

Authors :
Plamena Simeonova
Tao Wang
Christy Smith
Source :
Genetics in Medicine Open, Vol 2, Iss , Pp 101229- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

Subjects

Subjects :
Genetics
QH426-470
Medicine

Details

Language :
English
ISSN :
29497744
Volume :
2
Issue :
101229-
Database :
Directory of Open Access Journals
Journal :
Genetics in Medicine Open
Publication Type :
Academic Journal
Accession number :
edsdoj.4509f4ea04ca4709953dca35e588c32c
Document Type :
article
Full Text :
https://doi.org/10.1016/j.gimo.2024.101229