Strong similarities of the FMR1 mutation in multiple tissues: Postmortem studies of a male with a full mutation and a male carrier of a premutation

American Journal of Medical Genetics

Volumn 84, Issue 3, 1999, Pages 240-244

  Tassone, Flora ^a   Hagerman, Randi J ^b,c   Gane, Louise W ^b   Taylor, Annette K ^a  

^a Kimball Genetics Inc   (United States)

^b CHILDREN S HOSPITAL   (United States)

^c Children's Hospital Colorado   (United States)

Author keywords

Autopsy; Fragile X syndrome; Full mutation; Mitotic stability; Postmortem; Premutation

Indexed keywords

ARTICLE; CASE REPORT; CELL HETEROGENEITY; CHROMOSOME FRAGILE SITE; CHROMOSOME MUTATION; CONTROLLED STUDY; FRAGILE X SYNDROME; GENETIC STABILITY; HUMAN; MALE; METHYLATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADULT; DNA; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS; TISSUE DISTRIBUTION;

EID: 0033612330     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990528)84:3<240::AID-AJMG15>3.0.CO;2-B     Document Type: Article

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