Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

Human Mutation

Volumn 34, Issue 1, 2013, Pages 157-166

  Lokanga, Rachel Adihe ^a   Entezam, Ali ^a,c   Kumari, Daman ^a   Yudkin, Dmitry ^a   Qin, Mei ^b   Smith, Carolyn Beebe ^b   Usdin, Karen ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^c GENEDX   (United States)

Author keywords

FMR1; Fragile X related disorders; MutS ; Somatic expansion

Indexed keywords

PROTEIN MSH2; PROTEIN MSH3; PROTEIN MSH6;

ALLELE; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BLOOD; BRAIN; CELL EXPANSION; CELL PROLIFERATION; CONTROLLED STUDY; DISEASE EXACERBATION; DISEASE SEVERITY; FRAGILE X SYNDROME; GENETIC TRANSCRIPTION; HEART; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LIVER; LYMPHOCYTE; MALE; MOSAICISM; MOUSE; NONHUMAN; PRIORITY JOURNAL; SOMATIC CELL; SPERM; STEM CELL; TESTIS;

5' UNTRANSLATED REGIONS; ALLELES; ANIMALS; BLOTTING, WESTERN; BRAIN; DNA-BINDING PROTEINS; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE EXPRESSION PROFILING; HETEROZYGOTE; HUMANS; LIVER; MALE; MICE; MUTS HOMOLOG 2 PROTEIN; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TESTIS; TRINUCLEOTIDE REPEAT EXPANSION;

MURINAE; MUS;

EID: 84871618769     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22177     Document Type: Article

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