Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Journal of Medical Genetics

Volumn 52, Issue 8, 2015, Pages 541-547

  Damseh, Nadirah ^a   Simonin, Alexandre ^b   Jalas, Chaim ^c   Picoraro, Joseph A ^d   Shaag, Avraham ^e   Cho, Megan T ^d,f   Yaacov, Barak ^e   Neidich, Julie ^f   Al Ashhab, Motee ^a   Juusola, Jane ^f   Bale, Sherri ^f   Telegrafi, Aida ^f   Retterer, Kyle ^f   Pappas, John G ^g   Moran, Ellen ^g   Cappell, Joshua ^d   Yeboa, Kwame Anyane ^d   Abu Libdeh, Bassam ^a   Hediger, Matthias A ^b   Chung, Wendy K ^d   Elpeleg, Orly ^c   Edvardson, Simon ^e   more..

^a Makassed Islamic Hospital   (Israel)

^b UNIVERSITY OF BERN   (Switzerland)

^c Bonei Olam   (United States)

^d NewYork Presbyterian Hospital   (United States)

^e HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^f GENEDX   (United States)

^g NEW YORK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ALANINE; AMINO ACID TRANSPORTER; BIOTIN; SERINE; SLC1A4 PROTEIN; UNCLASSIFIED DRUG; SLC1A4 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BIOTINYLATION; CELL MEMBRANE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEMYELINATING DISEASE; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; EXOME; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPOMYELINATION; MALE; MICROCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; CASE REPORT; DNA MUTATIONAL ANALYSIS; GENETICS; HEK293 CELL LINE; HETEROZYGOTE DETECTION; METABOLISM; MYELIN SHEATH; PEDIGREE; TRANSPORT AT THE CELLULAR LEVEL;

ADOLESCENT; AMINO ACID TRANSPORT SYSTEM ASC; BIOLOGICAL TRANSPORT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FEMALE; HEK293 CELLS; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MALE; MICROCEPHALY; MYELIN SHEATH; PEDIGREE; SERINE;

EID: 84940042277     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103104     Document Type: Article

References (14)

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