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Paper Details

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
20
2021
/, 2435bp sequence, Alu, BBS, BBS loci, BBS1, Bardet-Biedl syndrome, LINE1, Met390Arg, SVA F, SVA-F, VNTR, alleles, c, c.1169T>G, ciliopathy, cognitive impairment, exon 13, hominid, hominid-specific SINE-R, mRNA, obesity, p.Met390Arg, patient, patient-derived cell lines, polydactyly, recessive BBS loci, renal failure, retinitis pigmentosa
Author NameAffiliation
Nicholas KatsanisAdvanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago
Nicholas KatsanisFeinberg School of Medicine, Northwestern University
Nicholas KatsanisAdvanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago
Nicholas KatsanisFeinberg School of Medicine, Northwestern University
H??l??ne DollfusInstitut de genetique medicale d'Alsace IGMA, INSERM U2, Universite de Strasbourg UMRS_2
H??l??ne DollfusHopitaux Universitaires de Strasbourg
H??l??ne DollfusHopitaux Universitaires de Strasbourg
Jean MullerInstitut de genetique medicale d'Alsace IGMA, INSERM U2, Universite de Strasbourg UMRS_2
Jean MullerHopitaux Universitaires de Strasbourg
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