[cite web | title = Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26580| accessdate = ] ] PBB_Summary
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References
Further reading
PBB_Further_reading
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*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Andersson B, Wentland MA, Ricafrente JY, "et al." |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138
*cite journal | author=Yu W, Andersson B, Worley KC, "et al." |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Patel H, Hart PE, Warner TT, "et al." |title=The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 209–15 |year= 2001 |pmid= 11389484 |doi=
*cite journal | author=Magré J, Delépine M, Khallouf E, "et al." |title=Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. |journal=Nat. Genet. |volume=28 |issue= 4 |pages= 365–70 |year= 2001 |pmid= 11479539 |doi= 10.1038/ng585
*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=Simha V, Garg A |title=Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue= 11 |pages= 5433–7 |year= 2003 |pmid= 14602785 |doi=
*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=Windpassinger C, Auer-Grumbach M, Irobi J, "et al." |title=Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. |journal=Nat. Genet. |volume=36 |issue= 3 |pages= 271–6 |year= 2004 |pmid= 14981520 |doi= 10.1038/ng1313
*cite journal | author=Ebihara K, Kusakabe T, Masuzaki H, "et al." |title=Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 5 |pages= 2360–4 |year= 2004 |pmid= 15126564 |doi=
*cite journal | author=Fu M, Kazlauskaite R, Baracho Mde F, "et al." |title=Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 6 |pages= 2916–22 |year= 2004 |pmid= 15181077 |doi= 10.1210/jc.2003-030485
*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=Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, "et al." |title=Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. |journal=Ann. Neurol. |volume=57 |issue= 3 |pages= 415–24 |year= 2005 |pmid= 15732094 |doi= 10.1002/ana.20410
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=van de Warrenburg BP, Scheffer H, van Eijk JJ, "et al." |title=BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. |journal=Neuromuscul. Disord. |volume=16 |issue= 2 |pages= 122–5 |year= 2006 |pmid= 16427281 |doi= 10.1016/j.nmd.2005.11.003
*cite journal | author=Gomes KB, Pardini VC, Ferreira AC, Fernandes AP |title=Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. |journal=J. Inherit. Metab. Dis. |volume=28 |issue= 6 |pages= 1123–31 |year= 2006 |pmid= 16435205 |doi= 10.1007/s10545-005-0038-5
*cite journal | author=Cho HJ, Sung DH, Ki CS |title=Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. |journal=Muscle Nerve |volume=36 |issue= 3 |pages= 384–6 |year= 2007 |pmid= 17486577 |doi= 10.1002/mus.20792
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