Mutated polynucleotide corresponding to a mutation responsible f

Details Mutated polynucleotide corresponding to a mutation responsible f Mutated polynucleotide corresponding to a mutation responsible f

1998-08-14

1999-12-07

Arthur, Lisa B.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 536 243, C12Q 168, C12P 1934, C07H 2104

Patent

active

059981474

ABSTRACT:
A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild type form encodes a polypeptide implicated in hereditary sensory defect, wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.

REFERENCES:
Guilford et al., "An Non-Syndromic Form of Neurosensory, Recessive Deafness Maps To The Peicentromeric Region Of Chromosome 13q," Nature Genetics, vol. 6, pp. 24-28 (1994).
Maw et al., "The Contribution Of The DFNBI Locus To Neurosensory Deafness In A Caucasian Population," Am. J. Hum. Genetics., vol. 57, pp. 629-635 (1995).
Gasparini et al., "Linkage OF DFNB1 Locus to Non-Ssynddromic Neurosensory Autosomal-Recessive Deafness In Mediterranean Families," Eur. J. Hum. Genetics, vol. 5, pp. 83-88 (1997).
Lee et al., "Transcriptional Downregulation of Gap-Junction Proteins Blocks Junctional Communication In Human Mammary Tumor Cell Lines," J. Cell Biology, vol. 118, pp. 1213-1221 (1992).
Kiang et al., "Upstream Genomic Sequence Of The Human Connexin26 Gene," Gene, vol. 199, pp. 165-171 (1997).
Steel, Karen P. New England Journal of Medicine; vol. 339, pp. 1545-1547, Nov. 1998.
Kelsell et al. Nature; vol. 387, pp. 80-83, May 1, 1997.
Sambrook et al., Molecular Cloning, Cold Spring Harbor Laboratory Press, p. 9.56-9.57, 1989.

Affiliated with

Also associated with

Rating

Mutated polynucleotide corresponding to a mutation responsible f does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Mutated polynucleotide corresponding to a mutation responsible f, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Mutated polynucleotide corresponding to a mutation responsible f will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-822430