@article{5709103a454f41e88db95616edde1eee,
title = "Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans",
abstract = "The molecular basis for autosomal dominant progressive nonsyndromic hearing loss in an Israeli Jewish family, Family H, has been determined. Linkage analysis placed this deafness locus, DFNA15, on chromosome 5q31. The human homolog of mouse Pou413, a member of the POU-domain family of transcription factors whose targeted inactivation causes profound deafness in mice, was physically mapped to the 25-centimorgan DFNA15-linked region. An 8- base pair deletion in the POU homeodomain of human POU4F3 was identified in Family H. A truncated protein presumably impairs high-affinity binding of this transcription factor in a dominant negative fashion, leading to progressive hearing loss.",
author = "Oz Vahava and Robert Morell and Lynch, {Eric D.} and Sigal Weiss and Kagan, {Marjory E.} and Nadav Ahituv and Morrow, {Jan E.} and Lee, {Ming K.} and Skvorak, {Anne B.} and Morton, {Cynthia C.} and Anat Blumenfeld and Moshe Frydman and Friedman, {Thomas B.} and King, {Mary Claire} and Avraham, {Karen B.}",
year = "1998",
month = mar,
day = "20",
doi = "10.1126/science.279.5358.1950",
language = "אנגלית",
volume = "279",
pages = "1950--1954",
journal = "Science",
issn = "0036-8075",
publisher = "American Association for the Advancement of Science",
number = "5358",
}