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Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome

Senior Løken syndrome (SLS) is a heterogeneous disorder characterized by severe retinal degenerations and juvenile-onset nephronophthisis. Genetic variants in ten different genes have been reported as the causes of SLS. Clinical evaluation of a patient with SLS and her unaffected parents revealed th...

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Detalles Bibliográficos
Autores principales:	Katagiri, Satoshi, Hayashi, Takaaki, Yoshitake, Kazutoshi, Murai, Noriyuki, Matsui, Zenichi, Kubo, Hiroyuki, Satoh, Hiroyuki, Matsufuji, Senya, Takamura, Tsuyoshi, Yokoo, Takashi, Omori, Yoshihiro, Furukawa, Takahisa, Iwata, Takeshi, Nakano, Tadashi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233217/ https://www.ncbi.nlm.nih.gov/pubmed/30425282 http://dx.doi.org/10.1038/s41598-018-35152-6

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