Transmission of an FMR1 premutation allele in a large family identified through newborn screening: The role of AGG interruptions

Journal of Human Genetics

Volumn 58, Issue 8, 2013, Pages 553-559

  Yrigollen, Carolyn M ^a   Mendoza Morales, Guadalupe ^a   Hagerman, Randi ^b,c   Tassone, Flora ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARTICLE; CAPILLARY ELECTROPHORESIS; CHEMICAL STRUCTURE; CLINICAL ARTICLE; ELECTROPHORESIS; FEMALE; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X MENTAL RETARDATION GENE; FRAGILE X SYNDROME; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; HAPLOTYPE; HUMAN; MALE; NEWBORN; NEWBORN SCREENING;

ALLELES; ELECTROPHORESIS, CAPILLARY; FAMILY; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; GENE EXPRESSION REGULATION; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; PEDIGREE; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84883271381     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.50     Document Type: Article

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