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Three Mutations in the Paired Homeodomain ofPAX3That Cause Waardenburg Syndrome Type 1

 

作者: Robert Morell,   Melisa L. Carey,   Anil K. Lalwani,   Thomas B. Friedman,   James H. Asher Jr.,  

 

期刊: Human Heredity  （Karger Available online 1997）
卷期: Volume 47, issue 1  

页码: 38-41

 

ISSN:0001-5652

 

年代: 1997

 

DOI:10.1159/000154387

 

出版商: S. Karger AG

 

关键词: PAX3;Waardenburg syndrome;WS1

 

数据来源: Karger

 

摘要:

Genomic DNA from probands of various Waardenburg syndrome (WS) families were PCR-amplified using primers flanking the 8 exons of PAX3. The PCR fragments were screened for sequence variants, and subsequently cycle se-quenced. Mutations were detected in exon 6 for 3 probands of WS type 1 families. These mutations all occur in the paired homeodomain DNA-binding motif.

 

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