ATP-binding transporter (ABC7) and methods for detection of...

Chemistry: molecular biology and microbiology – Micro-organism – tissue cell culture or enzyme using process... – Recombinant dna technique included in method of making a...

Reexamination Certificate

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C435S320100, C435S325000, C435S006120, C530S350000, C536S023500

Reexamination Certificate

active

06867017

ABSTRACT:
Disclosed is a novel ATP-binding cassette gene (ABC7), polypeptide and methods of detecting mutations therein. Further, the disclosure provides methods of detecting ABC7 associated disease and treatments thereof. In particular, the disclosure provides methods of detecting X-linked Sideroblastic Anemia and Ataxia associated with a mutation in the ABC7 polypeptide.

REFERENCES:
patent: WO 9401548 (1994-01-01), None
Savary et al. Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human Genomics 41 (2), 275-278 (1997).*
Stratagene Catalog 1988, p. 39.*
Stratagene Catalog 1991, p. 66.*
Hillier et al. zv65c05.r1 Soares_total_fetus_Nb2HF8_9w Homo sapiens cDNA clone IMAGE:758504 5′ similar to TR:G1167982 G1167982 ABC Transporter-7; mRNA sequence. (1997).*
Adams et al. EST176101 Colon carcinoma (Caco-2) cell line II Homo sapiens cDNA 5′ end, mRNA sequence. (1997).*
Savary, S., et al., “Isolation and Chromosomal Mapping of a Novel ATP-Binding Cassette Transporter Conserved in Mouse and Human” GENOMICS, vol. 41 (1997) pp. 275-278.
Kispal, G., et al., “The ABC transporter Atm1p is required for mitochondrial iron homeostasis,” FEBS Letters, vol. 418 (1997) pp. 346-350.
Raskind, W., et al., “X-linked Sideroblastic Anemia and Ataxia: Linkage to Phosphoglycerate Kinase at Xq13,” Am. J. Hum. Genet., vol. 48 (1991) pp. 335-341.

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