Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes

Human Mutation

Volumn 28, Issue 12, 2007, Pages 1216-1224

  Ennis, S ^a   Murray, A ^b   Brightwell, G ^c   Morton, N E ^a   Jacobs, P A ^d  

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

^c RUAKURA RESEARCH CENTRE   (New Zealand)

^d SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

cis acting; Expansion; Fragile X; Modifier

Indexed keywords

CIS ACTING ELEMENT; REPETITIVE DNA;

ARTICLE; CHROMOSOME XQ; CONTROLLED STUDY; FEMALE; FRAGILE X SYNDROME; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMES, HUMAN, X; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LOD SCORE; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 37049011896     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20600     Document Type: Article

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