Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation.

Journal of medical genetics

Volumn 43, Issue 5, 2006, Pages

  Robinson, D O ^a   Wills, A J ^a   Hammans, S R ^a   Read, S P ^a   Sillibourne, J ^a  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

POLYADENYLIC ACID BINDING PROTEIN;

AGED; ARTICLE; CASE REPORT; CHEMISTRY; FEMALE; GENETICS; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PEDIGREE; POINT MUTATION; TRINUCLEOTIDE REPEAT;

AGED; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; PEDIGREE; POINT MUTATION; POLY(A)-BINDING PROTEIN II; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 33745940703     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.037598     Document Type: Article

References (0)