Truncated prelamin A expression in HGPS-like patients: A transcriptional study

European Journal of Human Genetics

Volumn 23, Issue 8, 2015, Pages 1051-1061

  Barthélémy, Florian ^a   Navarro, Claire ^a   Fayek, Racha ^a   Da Silva, Nathalie ^a   Roll, Patrice ^a,b   Sigaudy, Sabine ^a,b   Oshima, Junko ^c   Bonne, Gisèle ^d,e,f   Papadopoulou Legbelou, Kyriaki ^g   Evangeliou, Athanasios E ^g   Spilioti, Martha ^g   Lemerrer, Martine ^h   Wevers, Ron A ⁱ   Morava, Eva ^j   Robaglia Schlupp, Andrée ^a,b   Lévy, Nicolas ^a,b   Bartoli, Marc ^a,b   De Sandre Giovannoli, Annachiara ^a,b  

^a AIX MARSEILLE UNIVERSITY   (France)

^b TIMONE HOSPITAL   (France)

^c UNIVERSITY OF WASHINGTON   (United States)

^d INSERM   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ Endocrine and Metabolic Diseases   (Netherlands)

^j TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN; LAMIN A; LAMIN C; PRELAMIN A; UNCLASSIFIED DRUG; LMNA PROTEIN, HUMAN; PROTEIN PRECURSOR; RNA SPLICING;

ADULT; ARTICLE; ATYPICAL PROGERIA SYNDROME; CHROMOSOMAL PARAMETERS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FEMALE; FIBROBLAST; GENE DELETION; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HUMAN; LAMINOPATHY; MALE; MIDDLE AGED; MISSENSE MUTATION; PATHOGENESIS; PATHOPHYSIOLOGY; PREMATURE AGING; PRIORITY JOURNAL; PROGERIA; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION; BIOSYNTHESIS; GENE EXPRESSION REGULATION; GENETIC TRANSCRIPTION; GENETICS; MUTATION; PATHOLOGY; PEDIGREE; RNA SPLICING;

AGING, PREMATURE; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; HUMANS; LAMIN TYPE A; MALE; MUTATION; PEDIGREE; PROGERIA; PROTEIN PRECURSORS; RNA SPLICE SITES; RNA SPLICING; TRANSCRIPTION, GENETIC;

EID: 84937517838     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.239     Document Type: Article

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