Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

PLoS ONE

Volumn 8, Issue 5, 2013, Pages

  Torella, Annalaura ^a,b   Fanin, Marina ^c   Mutarelli, Margherita ^a   Peterle, Enrico ^c   Del Vecchio Blanco, Francesca ^b   Rispoli, Rossella ^a,d   Savarese, Marco ^a,b   Garofalo, Arcomaria ^b   Piluso, Giulio ^b   Morandi, Lucia ^e   Ricci, Giulia ^f   Siciliano, Gabriele ^f   Angelini, Corrado ^c,g   Nigro, Vincenzo ^a,b  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSITY OF PISA   (Italy)

^g IRCCS SAN CAMILLO HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE LOCATION; GENE MAPPING; GENE PRODUCT; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTATOR GENE; SEQUENCE ANALYSIS; TRANSPORTIN 3 GENE;

BASE SEQUENCE; BETA KARYOPHERINS; BLOTTING, WESTERN; EXOME; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTANT PROTEINS; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84877119095     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0063536     Document Type: Article

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