Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

Journal of Medical Genetics

Volumn 43, Issue 2, 2006, Pages 143-147

  Yue, Y ^a   Stout, K ^b   Grossmann, B ^a   Zechner, U ^a   Brinckmann, A ^c   White, C ^d   Pilz, D T ^e   Haaf, Thomas ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d MORRISTON HOSPITAL   (United Kingdom)

^e UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NEUTROPHIL CYTOPLASMIC ANTIBODY;

AMINO ACID SEQUENCE; ARTICLE; BRAIN; CARCINOGENESIS; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 1; CHROMOSOME TRANSLOCATION 6; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; HUMAN VERSUS ANIMAL COMPARISON; LEUKEMIA CELL LINE; LIVER; MALE; MOUSE; NONHUMAN; ONCOGENE; PRIORITY JOURNAL; RECURRENT INFECTION; SCHOOL CHILD; SEQUENCE HOMOLOGY; SPEECH DISORDER; T CELL LYMPHOMA; T CELL LYMPHOMA BREAKPOINT ASSOCIATED TARGET 1 GENE; TESTIS; THYMUS; TISSUE SPECIFICITY;

AMINO ACID SEQUENCE; ANIMALS; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 6; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; EXONS; GENE EXPRESSION PROFILING; GENOME, HUMAN; HUMANS; INFECTION; MALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; TRANSLOCATION, GENETIC;

ANIMALIA;

EID: 32944476638     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.029660     Document Type: Article

References (7)

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