| Document Date: 2014-11-20 05:17:03
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City Seattle / Bioline / Bangalore / Hyderabad / / Company 4 SoftGenetics LLC / Exon Primer Software / Mutation Surveyor Software / Eurofins Genomics Pvt. Ltd. / analysed using Mutation Surveyor / Anuradha Udumudi ATS GeneTech Private Limited / / Country United States / United Kingdom / / / Facility Queen Elizabeth Hospital / University of Washington / / IndustryTerm carrier parents / carrier testing / disease management / Internet sources / variant analysis software / carrier status / food / / MedicalCondition autosomal recessive genetic disorder / disease / seizures / pancreatic beta cells causing diabetes mellitus / dehydration hypothermia / fulminant sepsis / coma / lethargy / vomiting / lactic acidosis / rare disorders / disorder / epilepsy / hypotonia / chronic metabolic acidosis / metabolic disorder / significant primary lactic acidosis / such disorders / early onset disease / sepsis / respiratory distress / genetic disorders / dehydration / / MedicalTreatment counseling / / Organization University of Washington / Queen Elizabeth Hospital for Children in London / / Person Arch Dis / Charles P Venditti / Alireza Radmaesh / Irini Manoli / Primer Reverse Primer Annealing / / Position Adam MP / Forward / / Technology DNA sequencing technology / cloning / / URL http /
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RESEARCH NOTE Prenatal Identification of a novel mutation causing Methyl Malonic Acidemia in a family without proband. Ameya Paleja and Anuradha Udumudi