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- W2154040587 abstract "Based on the map location of the aniridia (AN) locus in human chromosomal band 11p13, we have cloned a candidate AN cDNA (D11S812E) that is completely or partially deleted in two patients with AN. The <70 kb smallest region of overlap between the two deletions encompasses the 3′ coding region of the cDNA. This cDNA, which spans over 50 kb of genomic DNA, detects a 2.7 kb message specifically within all tissues affected in AN. The predicted polypeptide product possesses a paired domain, a homeodomain, and a serine/threonine-rich carboxy-terminal domain, structural motifs characteristic of certain transcription factors. The concordance between expression and pathology, map location, structure, and predicted function argues that the cDNA corresponds to the AN gene." @default.
- W2154040587 created "2016-06-24" @default.
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- W2154040587 date "1991-12-01" @default.
- W2154040587 modified "2023-10-07" @default.
- W2154040587 title "Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region" @default.
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- W2154040587 doi "https://doi.org/10.1016/0092-8674(91)90284-6" @default.
- W2154040587 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1684738" @default.
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