Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation

Human Genetics

Volumn 98, Issue 4, 1996, Pages 409-414

  Schmucker, Beatrice ^a   Ballhausen, Wolfgang G ^a   Pfeiffer, Rudolf A ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; DNA FLANKING REGION; DNA METHYLATION; EXON; FRAGILE X SYNDROME; GENE DELETION; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; LEUKOCYTE; MALE; MITOSIS; MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; TANDEM REPEAT;

BASE COMPOSITION; BASE SEQUENCE; CHILD, PRESCHOOL; DNA REPLICATION; DNA, ANTISENSE; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; LEUKOCYTES; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; SEQUENCE DELETION; TRINUCLEOTIDE REPEATS;

EID: 0029790975     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050230     Document Type: Article

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