Open AccessWhole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome
Author(s) -
Wendi Wang,
Jian Wang,
Jingjing Wang,
Jingting Liu,
Jianying Pei,
Wanyi Li,
Yanxia Wang,
Santasree Banerjee,
Ruifeng Xu,
Bin Yi
Publication year - 2022
Publication title -
allergologia et immunopathologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.483
H-Index - 37
eISSN - 1578-1267
pISSN - 0301-0546
DOI - 10.15586/aei.v50i6.529
Subject(s) - proband , exome sequencing , genetics , sanger sequencing , medicine , compound heterozygosity , hepatosplenomegaly , frameshift mutation , exome , exon , mutation , biology , gene , pathology , disease
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