FIGURE

Figure 5

ID

ZDB-FIG-220816-44

Publication

Sertori et al., 2022 - Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency

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Figure 5

Sanger sequence analysis of MED14 V763A and L1CAM Q498H variants in the patient, his parents, and his healthy brother. (A) The mother carries both alleles with A and G The patient and his healthy brother inherited the same alleles with G, resulting in the same MED14 V763A variant as indicated by red arrows. The PCR-Rev primer was used for sequencing. (B) Patient’s mother carries T and G alleles (red arrow). The patient inherited the allele with G (red arrow), resulting in the L1CAM^Q498H variant and his healthy brother inherited the allele with T (see black arrow). His father’s allele also has a T (black arrow). PCR-Fwd primer was used for sequencing.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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