Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses;Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria

Archivos Argentinos de Pediatria

Volumn 113, Issue 2, 2015, Pages e109-e112

  Cammarata Scalisi, Francisco ^a   Cozar, Mónica ^b   Grinberg, Daniel ^b   Balcells, Susana ^b   Asteggiano, Carla G ^c   Martínez Domenech, E Gustavo ^c   Bracho, Ana ^d   Sánchez, Yanira ^d   Stock, Frances ^e   Delgado Luengo, Wilmer ^d   Zara Chirinos, Carmen ^d   Chacín, José Antonio ^d  

^a UNIVERSIDAD DE LOS ANDES   (Venezuela)

^b UNIVERSITY OF BARCELONA   (Spain)

^c UNIVERSIDAD CATÓLICA DE CÓRDOBA   (Argentina)

^d UNIVERSIDAD DEL ZULIA   (Venezuela)

^e Hospital Universitario de Los Andes   (Venezuela)

Author keywords

EXT1 EXT2 CDG; Hereditary multiple exostoses

Indexed keywords

ADOLESCENT; ALLELE; ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; EPIPHYSIS; EXT1 GENE; GENE; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; CASE REPORT; FEMALE; GENETICS; MUTATION;

EXOSTOSIN-1; N ACETYLGLUCOSAMINYLTRANSFERASE;

ADOLESCENT; ALLELES; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; HUMANS; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES;

EID: 84928169587     PISSN: 03250075     EISSN: 16683501     Source Type: Journal    
DOI: 10.5546/aap.2015.e109     Document Type: Article

References (11)

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