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- W2012505689 abstract "CATCH 22 syndromes, which include DiGeorge syndrome and Velocardiofacial syndrome, are the most common cause of congenital heart disease which involve microdeletion of 22q11. Using a strategy including EST searching, PCR amplification and 5'-RACE, we have cloned a 1487 bp cDNA fragment from human heart cDNA library. The cloned GNB1L cDNA encodes a G-protein beta-subunit-like polypeptide, and the GNB1L gene is located in the critical region for DiGeorge syndrome. A comparison of GNB1L cDNA sequence with corresponding genomic DNA sequence revealed that this gene consists of seven exons and spans an approximately 60 kb genomic region. Northern blot analysis revealed GNB1L is highly expressed in the heart." @default.
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- W2012505689 date "2000-11-01" @default.
- W2012505689 modified "2023-10-18" @default.
- W2012505689 title "GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein β-subunit-like polypeptide" @default.
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- W2012505689 doi "https://doi.org/10.1016/s0167-4781(00)00189-5" @default.
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