Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 438-447

  Boutron, Audrey ^a   Marabotti, Anna ^b   Facchiano, Angelo ^b   Cheillan, David ^c   Zater, Mokhtar ^a   Oliveira, Christophe ^a   Costa, Catherine ^d   Labrune, Philippe ^e,f   Brivet, Michèle ^a   Loisel, N ^g   Morin, G ^h   Barth, M ⁱ   Altuzarra, C ^j   Mesli, S ^k   Rigalleau, V ^k   Rhead, M H ^l   de Schrevel, G ^l   Thauvin Robinet, C ^m   Dos Santos, A ⁿ   Dobbelaere, D ^o   Mention, K ^o   Guffon, N ^c   Cano, A ^p   Feillet, F ^q   Krempf, P ^r   Pitelet, G ^s   Bernard, O ^a   Hermeziu, B ^a   Gonzalez, E ^a   Habes, D ^a   Jacquemin, E ^a   Ogier de Baulny, H ^t   Roche, S ^t   Debray, D ^u   de Lonlay, P ^u   Servais, A ^u   Touati, G ^u   Bednarek, N ^v   Garnotel, R ^v   Devaux, A M ^w   Gay, C ^x   Eyer, D ^y   Baruteau, J ^z   Broue P ^z   Labarthe, F ^aa   Maillot, F ^aa   more..

^a BICÊTRE HOSPITAL   (France)

^b CNR   (Italy)

^c HOSPICES CIVILS DE LYON   (France)

^d HENRI MONDOR HOSPITAL   (France)

^e HÔPITAL ANTOINE BÉCLÈRE   (France)

^f UNIVERSITÉ PARIS SACLAY   (France)

^g Hôpital d'Agen   (France)

^h AMIENS UNIVERSITY HOSPITAL   (France)

ⁱ ANGERS UNIVERSITY HOSPITAL   (France)

^j UNIVERSITY HOSPITAL OF BESANÇON   (France)

^k BORDEAUX UNIVERSITY HOSPITAL   (France)

^l CAEN UNIVERSITY HOSPITAL   (France)

^m DIJON UNIVERSITY HOSPITAL   (France)

ⁿ Hôpital de Libourne   (France)

^o LILLE UNIVERSITY HOSPITAL   (France)

^p ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

^q UNIVERSITY HOSPITAL OF NANCY   (France)

^r NANTES UNIVERSITY HOSPITAL   (France)

^s UNIVERSITY HOSPITAL OF NICE   (France)

^t HÔPITAL ROBERT DEBRÉ   (France)

^u HÔPITAL NECKER ENFANTS MALADES   (France)

^v REIMS UNIVERSITY HOSPITAL   (France)

^w ROUEN UNIVERSITY HOSPITAL   (France)

^x UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^y UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^z TOULOUSE UNIVERSITY HOSPITAL   (France)

^aa UNIVERSITY HOSPITAL OF TOURS   (France)

more..

Author keywords

Galactose 1 phosphate uridyltransferase; Galactosemia; GALT gene; Structural modeling

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; EXON; FEMALE; GALACTOSEMIA; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOLECULAR DYNAMICS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STABILITY; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRANCE; GALACTOSEMIAS; HUMANS; INFANT; INTRONS; MALE; MIDDLE AGED; MOLECULAR DOCKING SIMULATION; MUTATION; PHENOTYPE; PROTEIN STABILITY; PROTEIN SUBUNITS; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 84867895538     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.07.025     Document Type: Article

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