Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease

R Biancheri; A de Rossi; HA Verbeek; R (Rachel) Schot; F Corsolini; S Assereto; Grazia Verheijen - Mancini; Frans Verheijen; C Minetti; M Filocamo

doi:10.1007/s10048-005-0011-3

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease

R Biancheri, A de Rossi, HA Verbeek, R (Rachel) Schot, F Corsolini, S Assereto, Grazia Verheijen - Mancini, Frans Verheijen, C Minetti, M Filocamo

Research output: Contribution to journal › Article › Academic › peer-review

13 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	195-199
Number of pages	5
Journal	Neurogenetics
Volume	6
Issue number	4
DOIs	https://doi.org/10.1007/s10048-005-0011-3
Publication status	Published - 2005

Access to Document

10.1007/s10048-005-0011-3

http://hdl.handle.net/1765/31804

Cite this

@article{a3e53ab02752402c8e2534a3b675d269,

title = "Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease",

author = "R Biancheri and {de Rossi}, A and HA Verbeek and Schot, {R (Rachel)} and F Corsolini and S Assereto and {Verheijen - Mancini}, Grazia and Frans Verheijen and C Minetti and M Filocamo",

year = "2005",

doi = "10.1007/s10048-005-0011-3",

language = "Undefined/Unknown",

volume = "6",

pages = "195--199",

journal = "Neurogenetics",

issn = "1364-6745",

publisher = "Springer-Verlag",

number = "4",

}

TY - JOUR

T1 - Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease

AU - Biancheri, R

AU - de Rossi, A

AU - Verbeek, HA

AU - Schot, R (Rachel)

AU - Corsolini, F

AU - Assereto, S

AU - Verheijen - Mancini, Grazia

AU - Verheijen, Frans

AU - Minetti, C

AU - Filocamo, M

PY - 2005

Y1 - 2005

U2 - 10.1007/s10048-005-0011-3

DO - 10.1007/s10048-005-0011-3

M3 - Article

VL - 6

SP - 195

EP - 199

JO - Neurogenetics

JF - Neurogenetics

SN - 1364-6745

IS - 4

ER -