Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Pagan, Cecile ^a,b,c   Botros, Hany G ^a,b   Poirier, Karine ^c,d   Dumaine, Anne ^e   Jamain, Stéphane ^e,f   Moreno, Sarah ^a,b   de Brouwer, Arjan ^g   Van Esch, Hilde ^h   Delorme, Richard ^a,b   Launay, Jean Marie ^c,i   Tzschach, Andreas ^j   Kalscheuer, Vera ^j   Lacombe, Didier ^k   Briault, Sylvain ^l,m   Laumonnier, Frédéric ^n,o,p   Raynaud, Martine ^n,o,p,q   van Bon, Bregje W ^g   Willemsen, Marjolein H ^g   Leboyer, Marion ^e,f,r,s   Chelly, Jamel ^c,d   Bourgeron, Thomas ^a,b,c   more..

^a INSTITUT PASTEUR   (France)

^b Institut Pasteur   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d CNRS   (France)

^e INSERM U955   (France)

^f Fondation Fondamental   (France)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁱ HÔPITAL LARIBOISIÈRE   (France)

^j MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^k HÔPITAL PELLEGRIN   (France)

^l UNIVERSITÉ D'ORLÉANS   (France)

^m CENTRE HOSPITALIER RÉGIONAL D ORLÉANS   (France)

ⁿ Université de Tours   (France)

^o UNIVERSITÉ DE TOURS   (France)

^p CNRS ERL3106   (France)

^q UNIVERSITY HOSPITAL OF TOURS   (France)

^r FACULTÉ DE MÉDECINE   (France)

^s HENRI MONDOR HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSEROTONIN METHYLTRANSFERASE; MELATONIN;

AMINO ACID SEQUENCE; ARTICLE; ASMT GENE; CELL LINE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; GENE; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; MALE; RISK FACTOR; SCREENING; SEQUENCE ANALYSIS; BIOSYNTHESIS; CASE CONTROL STUDY; DNA SEQUENCE; GENETIC SCREENING; GENETICS; MENTAL DEFICIENCY; METABOLISM; MUTATION; SLEEP DISORDER;

ACETYLSEROTONIN O-METHYLTRANSFERASE; CASE-CONTROL STUDIES; GENETIC TESTING; HUMANS; MELATONIN; MENTAL RETARDATION; METABOLIC NETWORKS AND PATHWAYS; MUTATION; SEQUENCE ANALYSIS, DNA; SLEEP DISORDERS;

EID: 78651546909     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-17     Document Type: Article

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