Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

American Journal of Human Genetics

Volumn 96, Issue 3, 2015, Pages 386-396

  Iqbal, Zafar ^a   Willemsen, Marjolein H ^a   Papon, Marie Amélie ^b,c   Musante, Luciana ^d   Benevento, Marco ^e   Hu, Hao ^d   Venselaar, Hanka ^f   Wissink Lindhout, Willemijn M ^a   Vulto Van Silfhout, Anneke T ^a   Vissers, Lisenka E L M ^a   De Brouwer, Arjan P M ^a,e   Marouillat, Sylviane ^b,c   Wienker, Thomas F ^d   Ropers, Hans Hilger ^d   Kahrizi, Kimia ^g   Nadif Kasri, Nael ^a,e   Najmabadi, Hossein ^g   Laumonnier, Frédéric ^b,c,h   Kleefstra, Tjitske ^a   Van Bokhoven, Hans ^a,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CHRU de Tours   (France)

^c UNIVERSITÉ DE TOURS   (France)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e RADBOUD UNIVERSITY   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^h UNIVERSITY HOSPITAL OF TOURS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; PROTEIN SLC6A17; UNCLASSIFIED DRUG; AMINO ACID TRANSPORTER; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORTER; SLC6A17 PROTEIN, HUMAN;

ADULT; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR DISORDER; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; DENDRITE; DENDRITIC SPINE; DISEASE SEVERITY; DUTCHMAN; EXOME; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; IRANIAN (CITIZEN); MIDDLE AGED; MOUSE; NERVE FIBER; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SPEECH DISORDER; TREMOR; YOUNG ADULT; AMINO ACID SEQUENCE; ANIMAL; C57BL MOUSE; CHROMOSOME MAP; COPY NUMBER VARIATION; CYTOLOGY; GENETIC TRANSFECTION; GENETICS; HIPPOCAMPUS; HOMOZYGOTE; MALE; MENTAL DISEASE; METABOLISM; MOLECULAR GENETICS; MUTATION; PEDIGREE;

AMINO ACID SEQUENCE; AMINO ACID TRANSPORT SYSTEMS; ANIMALS; CHROMOSOME MAPPING; DNA COPY NUMBER VARIATIONS; EXOME; FEMALE; HIPPOCAMPUS; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MENTAL DISORDERS; MICE; MICE, INBRED C57BL; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; SPEECH DISORDERS; TRANSFECTION; TREMOR; YOUNG ADULT;

EID: 84924274166     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.01.010     Document Type: Article

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