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- W277954828 abstract "aPan ancl Abstract: The HuP2 gene, which is human hemologue ofthe mouse Pax3 gene, was analyzed in two individuals with and one without Waardenburg syndrome type I (WSI) in a three generation family. We mapped part of exon 5 of the HuP2 gene on the human chromosome 2 by the polymerase chain reaction (PCR) using human-hamster somatic cell hybrid DN A. The sequence of the HuP2 gene the unaffected individual had about90 and IOO% nucleotide and amino-acid sequence hemology respectively, with tke mouse Pax3 sequence. On the other hand, the sequence of HuP2 exon 5 patients affected with WSI had a substitution consisting of a change from adenine to thymine. This mutation changed threonine into serine. This mutation in HuP2 exon 5 gene might be iesponsible for WSI. This result also indicated that genetic heterogeneity is the cause of WSI, when other reports were taken into consideration." @default.
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- W277954828 date "1994-01-01" @default.
- W277954828 modified "2023-09-23" @default.
- W277954828 title "Study of the HuP2 Gene in Patients with Waardenburg Syndrome" @default.
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