Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome

Most cases of DiGeorge syndrome (DGS) and related abnormalities are associated with deletions within 22q11. Shortest region of deletion overlap (SRO) mapping previously identified a critical region (the DGCR) of 500 kb, which was presumed to contain a gene or genes of major effect in the haploinsuff...

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Veröffentlicht in:	American journal of human genetics 1996-07, Vol.59 (1), p.23-31
Hauptverfasser:	SUTHERLAND, H. F, WADEY, R, SCAMBLER, P. J, MCKIE, J. M, TAYLOR, C, ATIF, U, JOHNSTONE, K. A, HALFORD, S, KIM, U.-J, GOODSHIP, J, BALDINI, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Base Sequence Biological and medical sciences Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 22 - genetics Complex syndromes DiGeorge Syndrome - genetics DNA Primers - genetics DNA, Complementary - genetics Exons Humans Introns Medical genetics Medical sciences Mice Molecular Sequence Data RNA - genetics Transcription, Genetic Translocation, Genetic
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