Western blot anal...
Western blot analysis of a lymphoblastic cell line from the patient's blood (column 11) demonstrates a greatly reduced level of ATM protein consistent with Ataxia Telangiectasia. AOA2 (ataxia oculomotor apraxia type 2)
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- “ Ataxia telengiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem disorder caused by two truncating ATM gene mutations leadi...”

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