Article
ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy.
Acta medica Okayama - 1 Apr 2005
Jiang Yan, Matsuo Toshihiko, Fujiwara Hirotake, Hasebe Satoshi, Ohtsuki Hiroshi, Yasuda Tatsuji
Abstract excerpt
To identify ARIX gene and PHOX2B gene polymorphisms in patients with congenital superior oblique muscle palsy, 3 exons of the ARIX gene and PHOX2B gene were sequenced by genomic DNA amplification with polymerase chain reaction (PCR) and direct sequencing in 31 patients with congenital superior oblique muscle palsy and in 54 normal individuals. A family with a father and one daughter each having congenital...
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