A comparative study of SMN protein and mRNA in blood and fibroblasts in patients with spinal muscular atrophy and healthy controls

PLoS ONE

Volumn 11, Issue 11, 2016, Pages

  Wadman, Renske I ^a   Stam, Marloes ^a   Jansen, Marc D ^a   Van Weegen, Yana Der ^a   Wijngaarde, Camiel A ^a   Harschnitz, Oliver ^a   Sodaar, Peter ^a   Braun, Kees P J ^a   Dooijes, Dennis ^a   Lemmink, Henny H ^b   Van Den Berg, Leonard H ^a   Van Ludo Der Pol, W ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SURVIVAL MOTOR NEURON PROTEIN; VALPROIC ACID; BIOLOGICAL MARKER; SMN2 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 2;

ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE DURATION; DISEASE SEVERITY; FEMALE; FIBROBLAST; GENE; GENE DELETION; GENE EXPRESSION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SKIN FIBROBLAST; SMN2 GENE; SPINAL MUSCULAR ATROPHY; ADOLESCENT; ADULT; AGED; BLOOD; CASE CONTROL STUDY; CLINICAL TRIAL; CROSS-SECTIONAL STUDY; FOLLOW UP; GENETICS; INFANT; METABOLISM; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; PATHOLOGY; PRESCHOOL CHILD; PROGNOSIS; REAL TIME POLYMERASE CHAIN REACTION; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BIOMARKERS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; DNA COPY NUMBER VARIATIONS; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; PROGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION; RNA, MESSENGER; SURVIVAL OF MOTOR NEURON 2 PROTEIN; YOUNG ADULT;

EID: 84997354251     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0167087     Document Type: Article

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