Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing.

Lopes, Jaime L; Rasmussen, Kristen J; Mehta, Nikita; Boczek, Nicole J; Hasadsri, Linda

Lopes, Jaime L; Rasmussen, Kristen J; Mehta, Nikita; Boczek, Nicole J; Hasadsri, Linda.

Affiliation

Lopes JL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Mehta N; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Boczek NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

Clin Chem ; 66(1): 48-51, 2020 01 01.

Article in En | MEDLINE | ID: mdl-32609848

Subject(s)

Amyotrophic Lateral Sclerosis/diagnosis; Exome Sequencing; Amyotrophic Lateral Sclerosis/genetics; Cerebrum/diagnostic imaging; Germ-Line Mutation; Humans; Isocitrate Dehydrogenase/genetics; Magnetic Resonance Imaging; Male; Middle Aged; Serine-Arginine Splicing Factors/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exome Sequencing / Amyotrophic Lateral Sclerosis Type of study: Diagnostic_studies Limits: Humans / Male / Middle aged Language: En Journal: Clin Chem Journal subject: QUIMICA CLINICA Year: 2020 Document type: Article Country of publication: United kingdom

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