Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to northern epilepsy

S  Ranta; M  Topcu; S  Tegelberg; H  Tan; A  Ustubutun; I  Saatci; A  Dufke; H  Enders; K  Pohl; Y  Alembik; W A  Mitchell; S E  Mole; A E  Lehesjoki

doi:10.1002/humu.20018

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to northern epilepsy

S Ranta, M Topcu, S Tegelberg, H Tan, A Ustubutun, I Saatci, A Dufke, H Enders, K Pohl, Y Alembik, W A Mitchell, S E Mole, A E Lehesjoki

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Human mutation
Volym	23
Sidor (från-till)	300-305
Antal sidor	6
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.20018
Status	Publicerad - 2004
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Åtkomst av dokument

10.1002/humu.20018

Citera det här

@article{a20cec418867407e9756d39c1eae6df5,

title = "Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to northern epilepsy",

keywords = "neuronal ceroid lipofuscinosis, CLN7, Turkish vLINCL, CLN8, Northern epilepsy, mutation detection, TRANSMEMBRANE PROTEIN, MUTANT MICE, MUTATIONS, LOCUS",

author = "S Ranta and M Topcu and S Tegelberg and H Tan and A Ustubutun and I Saatci and A Dufke and H Enders and K Pohl and Y Alembik and Mitchell, {W A} and Mole, {S E} and Lehesjoki, {A E}",

year = "2004",

doi = "10.1002/humu.20018",

language = "English",

volume = "23",

pages = "300--305",

journal = "Human mutation",

issn = "1059-7794",

publisher = "Wiley-Liss",

}

TY - JOUR

T1 - Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to northern epilepsy

AU - Ranta, S

AU - Topcu, M

AU - Tegelberg, S

AU - Tan, H

AU - Ustubutun, A

AU - Saatci, I

AU - Dufke, A

AU - Enders, H

AU - Pohl, K

AU - Alembik, Y

AU - Mitchell, W A

AU - Mole, S E

AU - Lehesjoki, A E

PY - 2004

Y1 - 2004

KW - neuronal ceroid lipofuscinosis

KW - CLN7

KW - Turkish vLINCL

KW - CLN8

KW - Northern epilepsy

KW - mutation detection

KW - TRANSMEMBRANE PROTEIN

KW - MUTANT MICE

KW - MUTATIONS

KW - LOCUS

U2 - 10.1002/humu.20018

DO - 10.1002/humu.20018

M3 - Article

SN - 1059-7794

VL - 23

SP - 300

EP - 305

JO - Human mutation

JF - Human mutation

ER -