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Laboratory Investigations
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Associated diseases
› PRT 20210 G/A
› Warfarin sensitivity/resistance polymorphisms CYP2C9*2 CYP2C9*3 VKORC1
› Sindroma de Shwachman-Diamond - Gene SBDS
› Gene UGT1A1 (TA insertion)
› NBN1 gene (enons 3 - 10)
› Sindrome de Wiskott-Aldrich - Gene WAS
› Teste de lise pelo glicerol acidificado (AGLT)
› Gene TPI
› Gene TPI. Prenatal Diagnosis
› Triose-fosfato-isomerase (Gene TPI) Estudo familiar
› Gene HBB
› Gene HBA1 and HBA2
› HBB gene mutations. Prenatal Diagnosis
› Variantes de Hemoglobina - cadeias beta. Estudo familiar
› Variantes de Hemoglobina - cadeias delta (Gene HBD)
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