A fragile X case with an amplification/deletion mosaic pattern

Human Genetics

Volumn 106, Issue 3, 2000, Pages 366-369

  Arocena, Dolores García ^a   De Diego, Yolanda ^b   Oostra, Ben A ^b   Willemsen, R ^b   Rodriguez, M Mirta ^a  

^a DEPARTAMENTO DE BIOQUÍMICA   (Uruguay)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

REPETITIVE DNA;

ALLELE; ARTICLE; BLOOD SMEAR; CASE REPORT; CHROMOSOME MOSAICISM; CONTROLLED STUDY; DNA FLANKING REGION; DNA METHYLATION; DNA SEQUENCE; DNA STRUCTURE; FRAGILE X SYNDROME; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HAIR ROOT; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; RNA TRANSLATION; SCHOOL CHILD; START CODON;

BLOTTING, SOUTHERN; CHILD; DNA METHYLATION; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MENTAL RETARDATION; MOSAICISM; MUTATION; NERVE TISSUE PROTEINS; NUCLEIC ACID CONFORMATION; RNA-BINDING PROTEINS; SEQUENCE DELETION; TRINUCLEOTIDE REPEATS;

EID: 0034081736     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051052     Document Type: Article

References (12)

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