A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (<i>BBS2</i>) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.

Hitti-Malin, Rebekkah J; Burmeister, Louise M; Lingaas, Frode; Kaukonen, Maria; Pettinen, Inka; Lohi, Hannes; Sargan, David; Mellersh, Cathryn S

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.

Hitti-Malin, Rebekkah J; Burmeister, Louise M; Lingaas, Frode; Kaukonen, Maria; Pettinen, Inka; Lohi, Hannes; Sargan, David; Mellersh, Cathryn S.

Afiliação

Hitti-Malin RJ; Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Newmarket, Suffolk CB8 7UU, UK.
Burmeister LM; Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK.
Lingaas F; Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Newmarket, Suffolk CB8 7UU, UK.
Kaukonen M; Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK.
Pettinen I; Faculty of Veterinary Medicine and Biosciences, Department of Medical Genetics, Norwegian University of Life Sciences, P.O. Box 369 Sentrum, N-0102 Oslo, Norway.
Lohi H; Department of Veterinary Biosciences, Department of Medical and Clinical Genetics, University of Helsinki and Folkhälsan Research Center, 00014 Helsinki, Finland.
Sargan D; Department of Veterinary Biosciences, Department of Medical and Clinical Genetics, University of Helsinki and Folkhälsan Research Center, 00014 Helsinki, Finland.
Mellersh CS; Department of Veterinary Biosciences, Department of Medical and Clinical Genetics, University of Helsinki and Folkhälsan Research Center, 00014 Helsinki, Finland.

Genes (Basel) ; 12(11)2021 11 08.

Article em En | MEDLINE | ID: mdl-34828377

Assuntos

Doenças do Cão/genética; Mutação de Sentido Incorreto; Proteínas/genética; Degeneração Retiniana/veterinária; Animais; Cães; Feminino; Hibridização Genética; Masculino; Fenótipo; Degeneração Retiniana/genética; Sequenciamento Completo do Genoma; Lobos

Palavras-chave

BBS; BBS2; PRA; canine; retinal degeneration; syndromic

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Proteínas / Mutação de Sentido Incorreto / Doenças do Cão Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Revista: Genes (Basel) Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido

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