Oculopharyngeal muscular dystrophy (OPMD): Analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism

Human Genetics

Volumn 116, Issue 4, 2005, Pages 267-271

  Robinson, David O ^a   Hammans, Simon R ^b   Read, Steven P ^a   Sillibourne, Julie ^a  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALANINE; BINDING PROTEIN; CYSTEINE; GUANINE; POLYADENINE BINDING PROTEIN NUCLEAR 1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DYSPHAGIA; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC RECOMBINATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTERSPERSED REPEAT; MAJOR CLINICAL STUDY; MEIOSIS; MITOSIS; MUSCLE WEAKNESS; NEUROMUSCULAR DISEASE; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTOSIS; SEQUENCE ANALYSIS; TRINUCLEOTIDE REPEAT;

BASE SEQUENCE; DNA PRIMERS; HETEROZYGOTE; HUMANS; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; MUTATION; POLY(A)-BINDING PROTEIN II; POLYMERASE CHAIN REACTION; RECOMBINATION, GENETIC;

EID: 14044279355     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1235-2     Document Type: Article

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