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

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	Human mutation
Vuosikerta	23
Sivut	300-305
Sivumäärä	6
ISSN	1059-7794
DOI - pysyväislinkit	https://doi.org/10.1002/humu.20018
Tila	Julkaistu - 2004
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Pääsy asiakirjaan

10.1002/humu.20018

Siteeraa tätä

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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",

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volume = "23",

pages = "300--305",

journal = "Human mutation",

issn = "1059-7794",

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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 -