| Literature DB >> 15480875 |
Guruswamy Neethirajan1, J Martin Collinson2, Subbaiah Ramasamy Krishnadas3, Perumalsamy Vijayalakshmi4, Shetty Shashikant4, Chandrashekhar Reena5, Periasamy Sundaresan6.
Abstract
We analyzed the sequence variation in the coding exons of PAX6 in eight unrelated south Indian pedigrees with one aniridic individual in each family. Mutations were detected by PCR, SSCP and allele-specific cloning followed by sequencing. Here we report two de novo deletion mutations, c.537delA (codon 59) and c.728del14 (codon 122), in the paired domain of PAX6. These deletions probably represent null or hypomorphic alleles consistent with PAX6 haploinsufficiency as the underlying genetic factor of aniridia.Entities:
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Year: 2004 PMID： 15480875 DOI： 10.1007/s10038-004-0200-1
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172