Fanconi Anemia: Diagnosis and Treatment
Fanconi Anemia: Diagnosis and Treatment
Fanconi Anemia: Diagnosis and Treatment
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This <strong>Fanconi</strong> <strong>Anemia</strong> (D1) patient has two mutantBRCA2 alleles1 3418aaTranscriptional1 2 3 4 5 6 7 8KKRR LKRRactivation domain Paternal AlleleNLS s1 3418aaTranscriptionalactivation domain1 2 3 4 5 6 7 8KKRR LKRRNLS sMaternal AlleleConclusion: The Breast Cancer Susceptibility Gene, BRCA2,is the <strong>Fanconi</strong> D1 Gene (> 15 D1 families identified to date)