A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 156, Issue 7, 2011, Pages 799-807

  Takahashi, Yumi ^a   Hosoki, Kana ^a   Matsushita, Masafumi ^b   Funatsuka, Makoto ^c   Saito, Kayoko ^c   Kanazawa, Hiroshi ^b   Goto, Yu ichi ^d   Saitoh, Shinji ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b OSAKA UNIVERSITY   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Angelman syndrome; Nonsense mediated mRNA decay; SLC9A6; Sodium hydrogen exchanger 6; X linked mental retardation

Indexed keywords

CYCLOHEXIMIDE; NHE6 PROTEIN; PROTEIN; SLC9A6 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; GENE; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; MALE; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; X LINKED MENTAL RETARDATION;

AMINO ACID SEQUENCE; ANGELMAN SYNDROME; BASE SEQUENCE; CELL LINE; DNA MUTATIONAL ANALYSIS; DOWN-REGULATION; GENOME, HUMAN; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; NONSENSE MEDIATED MRNA DECAY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SODIUM-HYDROGEN ANTIPORTER;

EID: 80052435524     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31221     Document Type: Article

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