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. 1999;13(4):290-3.
doi: 10.1002/(SICI)1098-1004(1999)13:4<290::AID-HUMU5>3.0.CO;2-C.

Characterisation of 16 polymorphic markers in the NF2 gene: application to hemizygosity detection

P Legoix  1 , M F Legrand, E Ollagnon, G Lenoir, G Thomas, J Zucman-Rossi
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Characterisation of 16 polymorphic markers in the NF2 gene: application to hemizygosity detection

P Legoix et al. Hum Mutat. 1999.

Abstract

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. Point mutations are evidenced in about 50% of the NF2 patients and large genomic deletions account for approximately 33% of the NF2 gene alterations. To facilitate the deletion screening, 16 polymorphic markers were identified in the NF2 genomic sequence enabling an hemizygosity test in familial studies.

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