SPTB

SPTB

Spectrin, beta, erythrocytic (includes spherocytosis, clinical type I), also known as SPTB, is a human gene.cite web | title = Entrez Gene: SPTB spectrin, beta, erythrocytic (includes spherocytosis, clinical type I)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6710| accessdate = ]

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References

Further reading

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*cite journal | author=Bennett V, Baines AJ |title=Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues. |journal=Physiol. Rev. |volume=81 |issue= 3 |pages= 1353–92 |year= 2001 |pmid= 11427698 |doi=
*cite journal | author=Kanzaki A, Rabodonirina M, Yawata Y, "et al." |title=A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216). |journal=Blood |volume=80 |issue= 8 |pages= 2115–21 |year= 1992 |pmid= 1391962 |doi=
*cite journal | author=Speicher DW, Weglarz L, DeSilva TM |title=Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site. |journal=J. Biol. Chem. |volume=267 |issue= 21 |pages= 14775–82 |year= 1992 |pmid= 1634521 |doi=
*cite journal | author=Gallagher PG, Tse WT, Costa F, "et al." |title=A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. |journal=J. Biol. Chem. |volume=266 |issue= 23 |pages= 15154–9 |year= 1991 |pmid= 1840591 |doi=
*cite journal | author=Tse WT, Lecomte MC, Costa FF, "et al." |title=Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. |journal=J. Clin. Invest. |volume=86 |issue= 3 |pages= 909–16 |year= 1990 |pmid= 1975598 |doi=
*cite journal | author=Yoon SH, Kentros CG, Prchal JT |title=Identification of an unusual deletion within homologous repeats of human reticulocyte beta-spectrin and probable peptide polymorphism. |journal=Gene |volume=91 |issue= 2 |pages= 297–302 |year= 1990 |pmid= 1976574 |doi=
*cite journal | author=Garbarz M, Tse WT, Gallagher PG, "et al." |title=Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. |journal=J. Clin. Invest. |volume=88 |issue= 1 |pages= 76–81 |year= 1991 |pmid= 2056132 |doi=
*cite journal | author=Tse WT, Gallagher PG, Pothier B, "et al." |title=An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). |journal=Blood |volume=78 |issue= 2 |pages= 517–23 |year= 1991 |pmid= 2070088 |doi=
*cite journal | author=Winkelmann JC, Chang JG, Tse WT, "et al." |title=Full-length sequence of the cDNA for human erythroid beta-spectrin. |journal=J. Biol. Chem. |volume=265 |issue= 20 |pages= 11827–32 |year= 1990 |pmid= 2195026 |doi=
*cite journal | author=Fukushima Y, Byers MG, Watkins PC, "et al." |title=Assignment of the gene for beta-spectrin (SPTB) to chromosome 14q23----q24.2 by in situ hybridization. |journal=Cytogenet. Cell Genet. |volume=53 |issue= 4 |pages= 232–3 |year= 1990 |pmid= 2209094 |doi=
*cite journal | author=Winkelmann JC, Costa FF, Linzie BL, Forget BG |title=Beta spectrin in human skeletal muscle. Tissue-specific differential processing of 3' beta spectrin pre-mRNA generates a beta spectrin isoform with a unique carboxyl terminus. |journal=J. Biol. Chem. |volume=265 |issue= 33 |pages= 20449–54 |year= 1990 |pmid= 2243099 |doi=
*cite journal | author=Coetzer T, Palek J, Lawler J, "et al." |title=Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. |journal=Blood |volume=75 |issue= 11 |pages= 2235–44 |year= 1990 |pmid= 2346784 |doi=
*cite journal | author=Winkelmann JC, Leto TL, Watkins PC, "et al." |title=Molecular cloning of the cDNA for human erythrocyte beta-spectrin. |journal=Blood |volume=72 |issue= 1 |pages= 328–34 |year= 1988 |pmid= 3390609 |doi=
*cite journal | author=Prchal JT, Morley BJ, Yoon SH, "et al." |title=Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 21 |pages= 7468–72 |year= 1987 |pmid= 3478706 |doi=
*cite journal | author=Pothier B, Morlé L, Alloisio N, "et al." |title=Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis. |journal=Blood |volume=69 |issue= 6 |pages= 1759–65 |year= 1987 |pmid= 3580577 |doi=
*cite journal | author=Wolfe LC, John KM, Falcone JC, "et al." |title=A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. |journal=N. Engl. J. Med. |volume=307 |issue= 22 |pages= 1367–74 |year= 1982 |pmid= 6215583 |doi=
*cite journal | author=Speicher DW, Marchesi VT |title=Erythrocyte spectrin is comprised of many homologous triple helical segments. |journal=Nature |volume=311 |issue= 5982 |pages= 177–80 |year= 1984 |pmid= 6472478 |doi=
*cite journal | author=Carlier MF, Simon C, Cassoly R, Pradel LA |title=Interaction between microtubule-associated protein tau and spectrin. |journal=Biochimie |volume=66 |issue= 4 |pages= 305–11 |year= 1984 |pmid= 6743699 |doi=
*cite journal | author=Goodman SR, Shiffer KA, Casoria LA, Eyster ME |title=Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis. |journal=Blood |volume=60 |issue= 3 |pages= 772–84 |year= 1982 |pmid= 7104494 |doi=
*cite journal | author=Schischmanoff PO, Winardi R, Discher DE, "et al." |title=Defining of the minimal domain of protein 4.1 involved in spectrin-actin binding. |journal=J. Biol. Chem. |volume=270 |issue= 36 |pages= 21243–50 |year= 1995 |pmid= 7673158 |doi=

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