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Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia

✍ Scribed by Andolfo, Immacolata; Alper, Seth L.; Delaunay, Jean; Auriemma, Carla; Russo, Roberta; Asci, Roberta; Esposito, Maria Rosaria; Sharma, Alok K.; Shmukler, Boris E.; Brugnara, Carlo; De Franceschi, Lucia; Iolascon, Achille


Book ID
118751085
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
921 KB
Volume
88
Category
Article
ISSN
0361-8609

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Missense mutations in POU4F3 cause autos
✍ Rob W.J. Collin; Ramesh Chellappa; Robert-Jan Pauw; Gert Vriend; Jaap Oostrik; W πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 396 KB

In a Dutch pedigree suffering from autosomal dominant nonsyndromic hearing impairment (ADNSHI), linkage was found to the locus for DFNA15, with a two-point logarithm of the odds (LOD) score of 5.1. Sequence analysis of the POU4F3 gene that is involved in DFNA15 revealed the presence of a missense mu