LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome

Journal of Medical Genetics

Volumn 47, Issue 6, 2010, Pages 361-370

  Gaudy Marqueste, Caroline ^a,b   Roll, Patrice ^b   Esteves Vieira, Vera ^b   Weiller, Pierre Jean ^b   Grob, Jean Jacques ^a   Cau, Pierre ^b   Lévy, Nicolas ^b   De Sandre Giovannoli, Annachiara ^b  

^a HÔPITAL SAINTE MARGUERITE   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS RECEPTOR; LAMIN A; LAMIN B; LAMIN B RECEPTOR; LAMIN B1; LAMIN B2; LAMIN C; PROTEIN; PROTEIN HP1ALPHA; UNCLASSIFIED DRUG;

AGED; ARTHRALGIA; ARTICLE; ASTHENIA; BIOINFORMATICS; CASE REPORT; CHOLESTASIS; CONTROLLED STUDY; DNA POLYMORPHISM; ERYTHEMA NODOSUM; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC CONSERVATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; INTRON; LAP2 GENE; LYMPHOBLASTOID CELL LINE; MAN1 GENE; MISSENSE MUTATION; MOLECULAR INTERACTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHYLOGENY; PRIMARY BILIARY CIRRHOSIS; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; RAYNAUD PHENOMENON; REAL TIME POLYMERASE CHAIN REACTION; RECEPTOR GENE; REYNOLD DISEASE; SKIN FIBROBLAST; SYNE1A GENE; SYSTEMIC SCLEROSIS; TELANGIECTASIA; ZMPSTE24 GENE;

AGED; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE EXPRESSION; HUMANS; IMMUNOHISTOCHEMISTRY; LIVER CIRRHOSIS, BILIARY; MUTATION; NUCLEAR ENVELOPE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SCLERODERMA, SYSTEMIC; SYNDROME;

EID: 77953703392     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.071696     Document Type: Article

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