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A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardcnburg syndrome type I (WSI) family
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Misscnse mutation in the paired domain of PA A 3 causes craniofacial - deafness - hand syndrome
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Further elucidation of the genomic structure of PAX 3. And identification of two different point mutations within the PAX3 homeobox that cause Waar-denburg syndrome type I in two families
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Waardcnburg syndrome (WS): The analysis of a single family with a WSI mutation showing linkage to RFLP markers on human chromosome 2q
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Analysis of short tandem repeat (STR) allele frequency distributions in a Balinese population
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