HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
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| Description | scientific article |
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author: Wael M Abdel-Rahman Anne Tybjærg-Hansen Päivi Peltomäki Anne-Marie Gerdes |
| Publication date | July 1, 2004 |
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