Síndrome de Morquio: nueva mutación del gen GALNS en dos hermanos del sur-occidente colombiano. Análisis clínico, molecular y bioinformático

Mucopolysaccharidosis type IV A, or Morquio syndrome, is an autosomal recessive lysosomal storage disorder that is caused by mutations on the GALNS gene, resulting in the accumulation of keratan sulfate and condroitin sulfate in certain tissues. It is expressed as generalized skeletal dysplasia incl...

Full description

Autores:

Pachajoa Londoño, Harry Mauricio
Eichler, Sabrina
Hernández Amariz, María Fernanda
Ruíz Botero, Felipe
Castillo, Andrés

Tipo de recurso:

Article of investigation

Fecha de publicación:

2016

Institución:

Universidad ICESI

Repositorio:

Repositorio ICESI

Idioma:

spa

OAI Identifier:

oai:repository.icesi.edu.co:10906/81413

Acceso en línea:

https://nebulosa.icesi.edu.co:2615/record/display.uri?eid=2-s2.0-84991772092&origin=resultslist&sort=plf-f&src=s&st1=S%c3%adndrome+de+Morquio&st2=S%c3%adndrome+de+Morquio&sid=E01D21DDECC54497C1F7194D30930AB0.wsnAw8kcdt7IPYLO0V48gA%3a1470&sot=b&sdt=b&sl=75&s=%28TITLE-ABS-KEY%28S%c3%adndrome+de+Morquio%29+AND+TITLE-ABS-KEY%28S%c3%adndrome+de+Morquio%29%29&relpos=0&citeCnt=0&searchTerm=
http://new.medigraphic.com/cgi-bin/resumen.cgi?IDARTICULO=67772
http://hdl.handle.net/10906/81413

Palabra clave:

Ciencias socio biomédicas
Medical sciences
Síndrome de Morquio
Bioinformática
Mucopolisacaridosis

Rights

openAccess

License

https://creativecommons.org/licenses/by-nc-nd/4.0/