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Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment

Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70764541

Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment

About this item

Full title

Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment

Publisher

Cham: Springer International Publishing

Journal title

European journal of human genetics : EJHG, 2008-06, Vol.16 (6), p.750-758

Language

English

Formats

Publication information

Publisher

Cham: Springer International Publishing

More information

Scope and Contents

Contents

Homozygosity mapping within consanguineous families is a powerful method of localising genes for autosomal recessive disease. We investigated a family from Punjab, Pakistan, a region where consanguineous marriages are frequent. The parents have no detectable clinical disorders. However, five out of six children present with schizophrenia, epilepsy...

Alternative Titles

Full title

Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_70764541

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70764541

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2008.11

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