Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients

American Journal of Medical Genetics

Volumn 85, Issue 3, 1999, Pages 311-316

  Grasso, M ^a   Faravelli, F ^a   Lo Nigro, C ^a   Chiurazzi, P ^b   Sperandeo, M P ^c   Argusti, A ^a   Pomponi, M G ^b   Lecora, M ^c   Sebastio, G F ^c   Perroni, L ^a   Andria, G ^c   Neri, G ^b   Dagna Bricarelli, F ^a  

^a GALLIERA HOSPITAL   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Deletion; FMR1 gene; FMR1 protein; Fragile X syndrome; Mosaicism

Indexed keywords

CELL PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CLINICAL ARTICLE; DNA FLANKING REGION; DNA METHYLATION; FRAGILE X SYNDROME; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; IMMUNOBLOTTING; LYMPHOCYTE; MOSAICISM; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA TRANSLATION; SEQUENCE ANALYSIS; TRINUCLEOTIDE REPEAT;

BASE SEQUENCE; BLOTTING, SOUTHERN; BLOTTING, WESTERN; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MOSAICISM; MUTATION; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS; SEQUENCE DELETION; TRINUCLEOTIDE REPEATS;

EID: 0032999950     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990730)85:3<311::AID-AJMG24>3.0.CO;2-A     Document Type: Article

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