Targeted next-generation sequencing assay for detection of mutations in primary myopathies

Anni Evilä; Meharji Arumilli; Bjarne Udd; Peter Hackman

doi:10.1016/j.nmd.2015.10.003

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

Anni Evilä, Meharji Arumilli, Bjarne Udd, Peter Hackman

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Neuromuscular Disorders
Volym	26
Nummer	1
Sidor (från-till)	7-15
Antal sidor	9
ISSN	0960-8966
DOI	https://doi.org/10.1016/j.nmd.2015.10.003
Status	Publicerad - jan. 2016
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3112 Neurovetenskaper
3124 Neurologi och psykiatri
3111 Biomedicinska vetenskaper

Åtkomst av dokument

10.1016/j.nmd.2015.10.003

Citera det här

@article{9bcd581690c84ac2905b399e171ba183,

title = "Targeted next-generation sequencing assay for detection of mutations in primary myopathies",

keywords = "Gene panel, Myopathy, Next-generation sequencing, EARLY RESPIRATORY-FAILURE, BINDING-PROTEIN-C, MUSCULAR-DYSTROPHY, DISTAL MYOPATHY, HYPERTROPHIC CARDIOMYOPATHY, NEUROMUSCULAR DISORDERS, TRUNCATING MUTATIONS, HEREDITARY MYOPATHY, GENETIC DIAGNOSIS, TITIN MUTATION, 3112 Neurosciences, 3124 Neurology and psychiatry, 3111 Biomedicine",

author = "Anni Evil{\"a} and Meharji Arumilli and Bjarne Udd and Peter Hackman",

year = "2016",

month = jan,

doi = "10.1016/j.nmd.2015.10.003",

language = "English",

volume = "26",

pages = "7--15",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Scientific Publ. Co",

number = "1",

}

TY - JOUR

T1 - Targeted next-generation sequencing assay for detection of mutations in primary myopathies

AU - Evilä, Anni

AU - Arumilli, Meharji

AU - Udd, Bjarne

AU - Hackman, Peter

PY - 2016/1

Y1 - 2016/1

KW - Gene panel

KW - Myopathy

KW - Next-generation sequencing

KW - EARLY RESPIRATORY-FAILURE

KW - BINDING-PROTEIN-C

KW - MUSCULAR-DYSTROPHY

KW - DISTAL MYOPATHY

KW - HYPERTROPHIC CARDIOMYOPATHY

KW - NEUROMUSCULAR DISORDERS

KW - TRUNCATING MUTATIONS

KW - HEREDITARY MYOPATHY

KW - GENETIC DIAGNOSIS

KW - TITIN MUTATION

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

KW - 3111 Biomedicine

U2 - 10.1016/j.nmd.2015.10.003

DO - 10.1016/j.nmd.2015.10.003

M3 - Article

VL - 26

SP - 7

EP - 15

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 1

ER -