Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)

Mucopolysaccharidosis IIIC (MPS IIIC), or Sanfilippo C, represents the only MPS disorder in which the responsible gene has not been identified; however, the gene has been localized to the pericentromeric region of chromosome 8. In an ongoing proteomics study of mouse lysosomal membrane proteins, we...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of human genetics 2006-10, Vol.79 (4), p.738-744
Hauptverfasser:	Fan, Xiaolian, Zhang, Huiwen, Zhang, Sunqu, Bagshaw, Richard D., Tropak, Michael B., Callahan, John W., Mahuran, Don J.
Format:	Artikel
Sprache:	eng
Schlagworte:	3' Untranslated Regions Acetyltransferases - chemistry Acetyltransferases - deficiency Acetyltransferases - genetics Amino Acid Sequence Animals Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Errors of metabolism Exons Expressed Sequence Tags Fibroblasts Frameshift Mutation Gene expression Gene Expression Regulation, Enzymologic General aspects. Genetic counseling Genetic disorders Genomics HeLa Cells Humans Introns Medical genetics Medical sciences Metabolic diseases Mice Models, Molecular Molecular Sequence Data Mucopolysaccharidosis III - enzymology Mucopolysaccharidosis III - genetics Mutation Proteins Proteomics Reverse Transcriptase Polymerase Chain Reaction RNA Splice Sites RNA, Messenger Rodents Sequence Alignment Transfection
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!