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

✍ Scribed by Patricia Legoix; Marie-Fernande Legrand; Elisabeth Ollagnon; Gilbert Lenoir; Gilles Thomas; Jessica Zucman-Rossi

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 209 KB
Volume: 13
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1999)13:4<290::aid-humu5>3.0.co;2-c

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Ellen Solomon

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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