WBSCR17

WBSCR17

Williams-Beuren syndrome chromosome region 17, also known as WBSCR17, is a human gene.cite web | title = Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64409| accessdate = ]

PBB_Summary
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summary_text = This gene encodes an N-acetylgalactosaminyltransferase, which has 97% sequence identity to the mouse protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.cite web | title = Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64409| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Nakamura N, Toba S, Hirai M, "et al." |title=Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene. |journal=Biol. Pharm. Bull. |volume=28 |issue= 3 |pages= 429-33 |year= 2005 |pmid= 15744064 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Scherer SW, Cheung J, MacDonald JR, "et al." |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767-72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Merla G, Ucla C, Guipponi M, Reymond A |title=Identification of additional transcripts in the Williams-Beuren syndrome critical region. |journal=Hum. Genet. |volume=110 |issue= 5 |pages= 429-38 |year= 2002 |pmid= 12073013 |doi= 10.1007/s00439-002-0710-x
*cite journal | author=Valero MC, de Luis O, Cruces J, Pérez Jurado LA |title=Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). |journal=Genomics |volume=69 |issue= 1 |pages= 1-13 |year= 2001 |pmid= 11013070 |doi= 10.1006/geno.2000.6312
*cite journal | author=Adams MD, Kerlavage AR, Fleischmann RD, "et al." |title=Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. |journal=Nature |volume=377 |issue= 6547 Suppl |pages= 3-174 |year= 1995 |pmid= 7566098 |doi=

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