Fragile X syndrome due to a missense mutation

European Journal of Human Genetics

Volumn 22, Issue 10, 2014, Pages 1185-1189

  Myrick, Leila K ^a   Nakamoto Kinoshita, Mika ^a   Lindor, Noralane M ^b   Kirmani, Salman ^c   Cheng, Xiaodong ^a   Warren, Stephen T ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c MAYO CLINIC   (United States)

Author keywords

FMR1 sequencing; fragile X syndrome; missense; mutation

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GLUTAMIC ACID; GLYCINE; MESSENGER RNA; METHYLPHENIDATE; FMR1 PROTEIN, HUMAN;

ADOLESCENT; AGGRESSION; AMINO ACID SUBSTITUTION; ARTICLE; ATTENTION DEFICIT DISORDER; ATTENTION DISTURBANCE; AUTISM; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; CRYSTAL STRUCTURE; FACE DYSMORPHIA; FRAGILE X SYNDROME; GENE SEQUENCE; HUMAN; HYPERACTIVITY; INTERNALIZATION; JOINT LAXITY; LARGE EAR; MACROORCHIDISM; MALE; MISSENSE MUTATION; POLYSOME; PRIORITY JOURNAL; ALLELE; AMINO ACID SEQUENCE; GENE LOCUS; GENETICS; MOLECULAR GENETICS; PROTEIN CONFORMATION; SINGLE NUCLEOTIDE POLYMORPHISM; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ALLELES; AMINO ACID SEQUENCE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC LOCI; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84927078899     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.311     Document Type: Article

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