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An integrated genetic map of the pearl locus of mouse chromosome 13.

Seymour(A B),Yanak(B L),O'Brien(E P),Rusin... Genome Res 1996-12-05

...Hexb), 3-hydroxy-3-methylglutaryl coenzyme A reductase (Hmgcr), microtubule associated protein 5/1b (Mtap5), phosphodies...

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sand...

Phaneuf(D),Wakamatsu(N),Huang(J Q),Borowsk... Hum Mol Genet 1996-10-22

...Hexb (beta subunit) genes, respectively, encoding lysosomal beta-hexosaminidase A (structure, alpha) and B (structure, b...

Bacillus subtilis mutS mutL operon: identification, nucleotide sequence and m...

Ginetti(F),Perego(M),Albertini(A M),Galizz... Microbiology 1996-09-30

...HexB of Streptococcus pneumoniae. Deletion of both mutS and mutL resulted in an increase in the frequency of spontaneous...

Identification of an active acidic residue in the catalytic site of beta-hexo...

Tse(R),Vavougios(G),Hou(Y),Mahuran(D J) Biochemistry 1996-07-29

...HEXB genes. This region includes beta Arg211 (invariant in 15 sequences), which we have previously shown to be an active...

Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.

Norflus(F),Yamanaka(S),Proia(R L) DNA Cell Biol 1996-07-09

...HEXB genes. These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enz...

Homeologous recombination and mismatch repair during transformation in Strept...

Humbert(O),Prudhomme(M),Hakenbeck(R),Dowso... Proc Natl Acad Sci U S A 1995-10-27

...HexB, the MutL homologue for which the essential role in repair as yet remains obscure, was shown to restore repair abil...

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotyp...

Sango(K),Yamanaka(S),Hoffmann(A),Okuda(Y),... Nat Genet 1995-11-02

...Hexb genes in embryonic stem cells, we have established mouse models corresponding to each disease. Unlike the two human...

[Inborn errors of metabolism due to mutations in isoenzyme genes].

Takagi(Y) Nihon Rinsho 1995-08-07

...HEXB, respectively) deficiencies. Gene analysis revealed a 5'-defect and point mutation in patients with Tay-Sachs disea...

Comparison of heteroduplex and single-strand conformation analyses, followed ...

Rossetti(S),Corrà(S),Biasi(M O),Turco(A E)... Mol Cell Probes 1995-11-30

...HEXB (hexosaminidase B), and COL1A2 (collagen type 1 alpha 2 chain) genes, responsible for diseases of medical interest....

Sandhoff disease in Argentina: high frequency of a splice site mutation in th...

Kleiman(F E),de Kremer(R D),de Ramirez(A O... Hum Genet 1994-09-30

The level of beta-hexosaminidase activity in plasma and leukocytes and the frequency of three known HEXB mutations were ...

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