Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

K. Kiiski; L. Laari; V. -L. Lehtokari; M. Lunkka-Hytonen; C. Angelini; R. Petty; P. Hackman; C. Wallgren-Pettersson; K. Pelin

doi:10.1016/j.nmd.2012.07.007

Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

K. Kiiski, L. Laari, V. -L. Lehtokari, M. Lunkka-Hytonen, C. Angelini, R. Petty, P. Hackman, C. Wallgren-Pettersson, K. Pelin

Avdelningen för medicinsk genetik och klinisk genetik

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Neuromuscular Disorders
Volym	23
Nummer	1
Sidor (från-till)	56-65
Antal sidor	10
ISSN	0960-8966
DOI	https://doi.org/10.1016/j.nmd.2012.07.007
Status	Publicerad - jan. 2013
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3124 Neurologi och psykiatri

Åtkomst av dokument

10.1016/j.nmd.2012.07.007

Citera det här

Kiiski, K., Laari, L., Lehtokari, V. -L., Lunkka-Hytonen, M., Angelini, C., Petty, R., Hackman, P., Wallgren-Pettersson, C., & Pelin, K. (2013). Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes. Neuromuscular Disorders, 23(1), 56-65. https://doi.org/10.1016/j.nmd.2012.07.007

@article{080b110b3ca04d4a8d955024f40092d1,

title = "Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes",

keywords = "Nebulin, NEB, Array comparative genomic hybridization (aCGH), NM-CGH, Copy number variation, Deletion, Nemaline myopathy, DEPENDENT PROBE AMPLIFICATION, NEBULIN GENE, DISTAL MYOPATHY, MUTATIONS, IDENTIFICATION, MICROARRAY, DELETION, TITIN, 3124 Neurology and psychiatry",

author = "K. Kiiski and L. Laari and Lehtokari, {V. -L.} and M. Lunkka-Hytonen and C. Angelini and R. Petty and P. Hackman and C. Wallgren-Pettersson and K. Pelin",

year = "2013",

month = jan,

doi = "10.1016/j.nmd.2012.07.007",

language = "English",

volume = "23",

pages = "56--65",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Scientific Publ. Co",

number = "1",

}

Kiiski, K, Laari, L, Lehtokari, V-L, Lunkka-Hytonen, M, Angelini, C, Petty, R, Hackman, P, Wallgren-Pettersson, C & Pelin, K 2013, 'Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes', Neuromuscular Disorders, vol. 23, nr. 1, s. 56-65. https://doi.org/10.1016/j.nmd.2012.07.007

TY - JOUR

T1 - Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

AU - Kiiski, K.

AU - Laari, L.

AU - Lehtokari, V. -L.

AU - Lunkka-Hytonen, M.

AU - Angelini, C.

AU - Petty, R.

AU - Hackman, P.

AU - Wallgren-Pettersson, C.

AU - Pelin, K.

PY - 2013/1

Y1 - 2013/1

KW - Nebulin

KW - NEB

KW - Array comparative genomic hybridization (aCGH)

KW - NM-CGH

KW - Copy number variation

KW - Deletion

KW - Nemaline myopathy

KW - DEPENDENT PROBE AMPLIFICATION

KW - NEBULIN GENE

KW - DISTAL MYOPATHY

KW - MUTATIONS

KW - IDENTIFICATION

KW - MICROARRAY

KW - DELETION

KW - TITIN

KW - 3124 Neurology and psychiatry

U2 - 10.1016/j.nmd.2012.07.007

DO - 10.1016/j.nmd.2012.07.007

M3 - Article

VL - 23

SP - 56

EP - 65

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 1

ER -