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Academic Journal

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

Subjects: Adult; Hereditary Nonpolyposis/diagnosis; DNA Mutational Analysis

  • Source: BMC Med GenetBMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)Ramchander, N, Ryan, N, Crosbie, E & Evans, D 2017, ' Homozygous germ-line mutation of the PMS2 mismatch repair gene: A

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