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Journal article

Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

Abstract:

A novel gene encoding a 2.2 kilobase transcript has been isolated from the Xp21.1 region of the human X chromosome by exon amplification. The gene, called EXT1, spans 80 kilobases and contains 12 exons, at least two of which are alternatively spliced and have predicted products of 464 and 471 amino acids respectively. Conceptual translation of the open reading frames shows one product with a 30 amino acid signal peptide, which is absent from the alternative transcript, followed by three compl...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/4.12.2347

Authors


Aldred, MA More by this author
Manson, FD More by this author
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Journal:
Human molecular genetics
Volume:
4
Issue:
12
Pages:
2347-2353
Publication date:
1995-12-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:832f66b0-fb91-4a86-98ce-e9b2d1924667
Source identifiers:
45007
Local pid:
pubs:45007

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