Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2512-2520

  Collins, Stephen C ^a   Bray, Steven M ^a   Suhl, Joshua A ^a   Cutler, David J ^a   Coffee, Bradford ^a   Zwick, Michael E ^a   Warren, Stephen T ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Developmental delay; FMR1; Massively parallel sequencing

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; DNA; FMR1 PROTEIN, HUMAN; LUCIFERASE; PRIMER DNA;

3' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; DNA STRUCTURE; FMR1 GENE; FRAGILE X SYNDROME; GENE; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRON; MAJOR CLINICAL STUDY; MALE; MASSIVELY PARALLEL SEQUENCING; MISSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; ADOLESCENT; CHILD; DEVELOPMENTAL DISORDER; GENETICS; GENOTYPE; ISOLATION AND PURIFICATION; METHODOLOGY; PHENOTYPE; PLASMID; POLYMERASE CHAIN REACTION; PROMOTER REGION; REFERENCE VALUE; SINGLE NUCLEOTIDE POLYMORPHISM; TRINUCLEOTIDE REPEAT;

ADOLESCENT; CHILD; CONSERVED SEQUENCE; DEVELOPMENTAL DISABILITIES; DNA; DNA PRIMERS; FRAGILE X MENTAL RETARDATION PROTEIN; GENETIC VARIATION; GENOTYPE; HUMANS; INTRONS; LUCIFERASES; MALE; MUTATION, MISSENSE; PHENOTYPE; PLASMIDS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; REFERENCE VALUES; TRANSCRIPTION, GENETIC; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 78349251291     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33626     Document Type: Article

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