Analysis of peripheral amyloid precursor protein in Angelman Syndrome

American Journal of Medical Genetics, Part A

Volumn 170, Issue 9, 2016, Pages 2334-2337

  Erickson, Craig A ^a   Wink, Logan K ^a   Baindu, Bayon ^b   Ray, Balmiki ^b   Schaefer, Tori L ^a   Pedapati, Ernest V ^a   Lahiri, Debomoy K ^b  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

amyloid precursor protein; Angelman Syndrome; brain derived neurotrophic factor; UBE3A

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN; AMYLOID PRECURSOR PROTEIN ALPHA; UNCLASSIFIED DRUG; APBA2 PROTEIN, HUMAN; BIOLOGICAL MARKER; CADHERIN; CARRIER PROTEIN; NERVE PROTEIN; UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; HAPPY PUPPET SYNDROME; HUMAN; MAJOR CLINICAL STUDY; PREDICTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; ANGELMAN SYNDROME; BLOOD; CASE CONTROL STUDY; CHROMOSOME 15; FEMALE; GENETICS; MALE; MUTATION; PHENOTYPE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AMYLOID BETA-PROTEIN PRECURSOR; ANGELMAN SYNDROME; BIOMARKERS; CADHERINS; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 84978437331     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37811     Document Type: Article

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