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Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/Velocardiofacial Syndrome without Deletions within Chromosome 22q11

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Bibliographic Details
Published in:	American journal of human genetics 1999-07, Vol.65 (1), p.247-249
Main Authors:	Wadey, Roy, McKie, Judith, Papapetrou, Charalambos, Sutherland, Helen, Lohman, Frans, Osinga, Jan, Frohn, Ingrid, Hofstra, Robert, Meijers, Carel, Amati, Francesca, Conti, Emanuela, Pizzuti, Antonio, Dallapiccola, Bruno, Novelli, Giuseppe, Scambler, Peter
Format:	Article
Language:	English
Subjects:	22q11 deletion Adaptor Proteins, Vesicular Transport Chromosomes, Human, Pair 22 DiGeorge syndrome DiGeorge Syndrome - genetics Gene Deletion Genetic Testing Humans Intracellular Signaling Peptides and Proteins Letter Mutation Polymorphism, Genetic Polymorphism, Single-Stranded Conformational Proteins - genetics Velocardiofacial syndrome
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