Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

Autor: Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E

Publikováno v: JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The se

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https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3558

Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

Autor: Meldau S; Division of Chemical Pathology, Department of Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa., De Lacy RJ; Division of Paediatric Gastroenterology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa., Riordan GTM; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa., Goddard EA; Division of Paediatric Gastroenterology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa., Pillay K; Division of Anatomical Pathology, Department of Pathology, Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa., Fieggen KJ; Division of Human Genetics, Department of Medicine, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa., Marais AD; Division of Chemical Pathology, Department of Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa., Van der Watt GF; Division of Chemical Pathology, Department of Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa.

Publikováno v: Clinical genetics [Clin Genet] 2018 May; Vol. 93 (5), pp. 1093-1096. Date of Electronic Publication: 2018 Mar 25.