Mutations in SLC6A17 cause autosomal-recessive intellectual disability

Clinical Genetics

Volumn 88, Issue 2, 2015, Pages 136-137

  Waltl, S ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; AMINO ACID TRANSPORTER; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORTER;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY; CASE REPORT; CHILD; GENE MUTATION; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SLC6A17 GENE; TANDEM MASS SPECTROMETRY; ANIMAL; FEMALE; GENETICS; HOMOZYGOTE; MALE; MENTAL DISEASE; SPEECH DISORDER; TREMOR;

AMINO ACID TRANSPORT SYSTEMS; ANIMALS; FEMALE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MENTAL DISORDERS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; SPEECH DISORDERS; TREMOR;

EID: 84935687863     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12610     Document Type: Article

References (2)

1. Gilissen C, Hehir-Kwa JY, Thung DT et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 2014: 511 (7509): 344-347.
2. Ropers HH. Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet 2010: 11: 161-187.