A novel duplication in the FMR1 gene: Implications for molecular analysis in fragile X syndrome and repeat instability

Clinical Genetics

Volumn 72, Issue 6, 2007, Pages 528-531

  Mononen, Tarja ^a   Von Koskull, H ^b   Airaksinen, R L ^a   Juvonen, V ^c  

^a KUOPIO UNIVERSITY HOSPITAL   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c TURKU UNIVERSITY HOSPITAL   (Finland)

Author keywords

Duplication; FMR1; Fragile X syndrome; Genetic testing; Repeat instability

Indexed keywords

CYSTEINE; FRAGILE X MENTAL RETARDATION PROTEIN; GLYCINE;

ALLELE; ARTICLE; BLOOD SAMPLING; FEMALE; FRAGILE X SYNDROME; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DYNAMICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

BASE SEQUENCE; CHROMOSOMAL INSTABILITY; DNA PRIMERS; FEMALE; FINLAND; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE DUPLICATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; TRINUCLEOTIDE REPEATS;

EID: 36248996499     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00903.x     Document Type: Article

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