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1. Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family.

Author

Sharapova SO, Haapaniemi E, Sakovich IS, Rojas J, Gámez-Díaz L, Mareika YE, Guryanova IE, Migas AA, Mikhaleuskaya TM, Grimbacher B, and Aleinikova OV

Subjects
Biopsy, Child, Preschool, DNA Mutational Analysis, Female, Germ-Line Mutation, Homozygote, Humans, Infant, Male, Pedigree, Republic of Belarus, Siblings, Tomography, X-Ray Computed, Exome Sequencing, Adaptor Proteins, Signal Transducing genetics, Genetic Association Studies, Genetic Predisposition to Disease, Mosaicism, Mutation
Published
2018
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