Fidziańska(E),Abramowicz(T),Czartoryska(B)... Probl Med Wieku Rozwoj 1993-03-11

...HEXB), a marker for 15q13. It seems worth-while to point out that human ARSB activity was found only in the hybrids whic...

Rosenzweig(R F) Genet Res 1992-06-04

...HEXB), phosphoglucose isomerase (PGI), phosphofructokinase (PFKA and PFKB), or pyruvate kinase (PYK). Transformants cont...

Stirling(J L),Beccari(T),Hoade(J),Pezzetti... Histochem J 1992-01-10

...Hexb genes.

Brown(C A),McInnes(B),de Kremer(R D),Mahur... Biochim Biophys Acta 1992-11-19

...HEXB gene encoded beta-subunit cause a form of GM2 gangliosidosis known as Sandhoff disease. Although this is a rare dis...

McInnes(B),Potier(M),Wakamatsu(N),Melancon... J Clin Invest 1992-09-09

...HEXB gene were identified in this patient, a partial 5' gene deletion (a null allele), and a C----T transition 8 nucleot...

McInnes(B),Brown(C A),Mahuran(D J) Biochim Biophys Acta 1992-05-20

...HEXB gene mutations are known. We report the characterization of two rare HEXB mutations present in genomic DNA from a s...

Wakamatsu(N),Kobayashi(H),Miyatake(T),Tsuj... J Biol Chem 1992-03-03

...HEXB gene coding for the beta subunit revealed two single base substitutions, one in exon 2 (A to G, a known polymorphis...

Brown(C A),Mahuran(D J) J Biol Chem 1991-09-26

...HEXB genes, respectively. Extensive homology in both the gene structures and deduced primary sequences demonstrate their...

Neote(K),Brown(C A),Mahuran(D J),Gravel(R ... J Biol Chem 1991-01-17

...HEXB mRNA. To identify the site of translation initiation, we mutated the three ATGs by deletion and site-directed mutag...

Prudhomme(M),Méjean(V),Martin(B),Claverys(... J Bacteriol 1991-12-20

...HexB and MutL prompted us to investigate the effect of expressing hex genes in E. coli. Complementation of mutS or mutL ...