Open AccessUsing Whole Exome Sequencing, a Case of Autosomal Recessive Spastic Paraplegia 50 caused by a splicing mutation in AP4M1 gene
Author(s) -
Rabab Khairat,
Engy A. Ashaat,
Nirvana AbdelHakim,
Mona El,
Samira Ismail
Publication year - 2021
Publication title -
current science international
Language(s) - English
Resource type - Journals
eISSN - 2706-7920
pISSN - 2077-4435
DOI - 10.36632/csi/2021.10.4.56
Subject(s) - genetics , exome sequencing , hereditary spastic paraplegia , rna splicing , gene , mutation , spastic , biology , exome , medicine , phenotype , cerebral palsy , physical medicine and rehabilitation , rna
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