An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability

PLoS ONE

Volumn 8, Issue 12, 2013, Pages

  Falcone, Michelle ^a   Yariz, Kemal O ^a   Ross, David B ^b   Foster II, Joseph ^a   Menendez, Ibis ^a   Tekin, Mustafa ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b Comprehensive Neurobehavioral Institute ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; SERINE; THREONINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 1; DISEASE SEVERITY; DNA SEQUENCE; EXOME; FEMALE; GENE DELETION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MUTATIONAL ANALYSIS; NERVE CELL STIMULATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PROMOTER REGION; PROTEIN EXPRESSION; SCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACIDS; CHILD; CHROMOSOME SEGREGATION; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; SEQUENCE DELETION;

EID: 84891950829     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0082810     Document Type: Article

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