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A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1051219

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33

About this item

Full title

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33

Publisher

London: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 1998-02, Vol.35 (2), p.141-145

Language

English

Formats

Publication information

Publisher

London: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disease. To date, mutations in four members of the phototransduction cascade have been implicated in ARRP. Additionally, linkage of the disease to three loci on 1p, 1q, and 6p has been described. However, the majority of cases are still uncharacterised. We have performed...

Alternative Titles

Full title

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1051219

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1051219

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg.35.2.141

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