The FRAXopathies: Definition, overview, and update

American Journal of Medical Genetics, Part A

Volumn 155, Issue 8, 2011, Pages 1803-1816

  Pirozzi, Filomena ^a   Tabolacci, Elisabetta ^a   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

FMR1 gene; Fragile X syndrome; FXPOI; FXTAS; Pharmacological approaches

Indexed keywords

CLINICAL FEATURE; DISEASE SEVERITY; FRAGILE X SYNDROME; FRAGILE X TREMOR ATAXIA SYNDROME; FRAXA GENE; GENE; GENE MUTATION; HUMAN; MOLECULAR GENETICS; PATHOGENESIS; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; REVIEW; SYNDROME; X CHROMOSOME;

ANIMALS; CLINICAL TRIALS AS TOPIC; EPIGENESIS, GENETIC; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MENOPAUSE, PREMATURE; MUTATION; PROTEIN STRUCTURE, TERTIARY;

EID: 79960555553     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34113     Document Type: Review

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