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Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness

Abstract:

Glaucoma is a leading cause of irreversible blindness in Canada. Congenital glaucoma usually manifests during the first years of life and is characterised by severe visual loss and autosomal recessive inheritance. Two disease loci, on chromosomes 1p36 and 2p21, have been associated with various forms of congenital glaucoma. A branch of a large six generation family from a consanguineous Amish community in south western Ontario was affected with congenital glaucoma and was studied by linkage a...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1136/jmg.37.6.422

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Institution:
University of Oxford
Department:
Oxford, MSD, Biochemistry
Role:
Author
Publisher:
BMJ Publishing Group Publisher's website
Journal:
Journal of Medical Genetics Journal website
Volume:
37
Issue:
6
Pages:
422-427
Publication date:
2000-06-01
Acceptance date:
2000-01-14
DOI:
ISSN:
1468-6244
Pubs id:
pubs:652984
URN:
uri:f0a11722-6d02-450c-ba1a-7298a0601d6a
UUID:
uuid:f0a11722-6d02-450c-ba1a-7298a0601d6a
Local pid:
pubs:652984
Paper number:
6
Keywords:

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