Lamin A truncation in Hutchinson-Gilford progeria

Science

Volumn 300, Issue 5628, 2003, Pages 2055-

  De Sandre Giovannoli, Annachiara ^a   Bernard, Rafaëlle ^b   Cau, Pierre ^a,c   Navarro, Claire ^a   Amiel, Jeanne ^d   Boccaccio, Irène ^a   Lyonnet, Stanislas ^d   Stewart, Colin L ^e   Munnich, Arnold ^d   Le Merrer, Martine ^d   Lévy, Nicolas ^a,b  

^a INSERM   (France)

^b TIMONE HOSPITAL   (France)

^c HÔPITAL DE LA CONCEPTION   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A;

CHEMISTRY;

ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; LMNA GENE; PATHOGENESIS; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGERIA;

ALLELES; CELL NUCLEUS; CHILD; EXONS; FEMALE; HUMANS; LAMIN TYPE A; LYMPHOCYTES; MUTATION; POLYMORPHISM, GENETIC; PROGERIA; RNA SPLICING; RNA, MESSENGER; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 10744229294     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1084125     Document Type: Article

References (6)

1. Clinical and epidemiological information are available online at www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id= 176670.
2. H. J. Worman, J. C. Courvalin, Trends Cell. Biol. 12, 591 (2002).
3. B. Burke, C. L. Stewart, Nature Rev. Cell. Mol. Biol. 3, 575 (2002).
4. G. Novelli et al., Am. J. Hum. Genet. 71, 426 (2002).
5. Materials and methods are available as supporting material on Science Online.
6. Supported by AFM, INSERM, AP-HM. Thanks to D. Depetris, F. Leturcq, and N. Deburgrave.