Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

Human Genetics

Volumn 121, Issue 5, 2007, Pages 539-547

  Froyen, Guy ^a   Bauters, Marijke ^a   Boyle, Jackie ^b   Van Esch, Hilde ^c   Govaerts, Karen ^a   van Bokhoven, Hans ^e   Ropers, Hans Hilger ^f   Moraine, Claude ^g   Chelly, Jamel ^h   Fryns, Jean Pierre ^d   Marynen, Peter ^a   Gecz, Jozef ^i,j   Turner, Gillian ^c  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY OF NEWCASTLE   (Australia)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^g UNIVERSITY HOSPITAL OF TOURS   (France)

^h CHU Cochin ^*  (France)

ⁱ WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^j UNIVERSITY OF ADELAIDE   (Australia)

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Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID TRANSPORTER; GENE PRODUCT; GENOMIC DNA; METHYLTRANSFERASE; PROTEIN FTSJ1; PROTEIN PQBP1; SOLUTE CARRIER FAMILY 38 MEMBER 5 PROTEIN; SYNOVIAL SARCOMA X BREAKPOINT PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTISM; CASE REPORT; CHROMOSOME INACTIVATION; CHROMOSOME TRANSLOCATION; CHROMOSOME XP; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DISEASE SEVERITY; FACE DYSMORPHIA; GENE DELETION; GENE DUPLICATION; GENE LOSS; GENETIC RECOMBINATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MALE; MICROARRAY ANALYSIS; MOTOR DYSFUNCTION; MUTATION RATE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPEECH DISORDER; UNSTABLE DNA SEQUENCE; X CHROMOSOME ABERRATION; X LINKED MENTAL RETARDATION;

AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; MALE; MENTAL RETARDATION; METHYLTRANSFERASES; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; SEX CHROMOSOME ABERRATIONS; SIBLINGS; X CHROMOSOME INACTIVATION;

EID: 34248221547     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-007-0343-1     Document Type: Article

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