Journal article icon

Journal article

Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX.

Abstract:

Human Xp22.1 contains genes involved in mineral balance that are implicated in X-linked hypophosphatemia (XLH) in humans, its murine homologue (Hyp), and another distinct murine hypophosphatemic disorder (Gy). In XLH, a gene, PEX, has been found to be mutated in up to 83% of patients but the sequences of the promoter and 5' end have not been characterized. To further the understanding of this genomic region, 139,454 bp in Xp22.1 have been sequenced. Our analysis confirms the three most 5' pub...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1006/geno.1997.4876

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
Journal:
Genomics
Volume:
44
Issue:
2
Pages:
227-231
Publication date:
1997-09-05
DOI:
EISSN:
1089-8646
ISSN:
0888-7543
URN:
uuid:f6f1718d-04ae-4661-a03b-1e708d682b92
Source identifiers:
2494
Local pid:
pubs:2494

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP