Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
about
Characterization of the human lysosomal alpha-glucosidase geneStructure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgroundsStructure and distribution of an Alu-type deletion mutation in Sandhoff diseaseA pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screeningGenomic structure of human lysosomal glycosylasparaginaseThe natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.Cloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme.Purification, characterization, and cloning of a Spodoptera frugiperda Sf9 beta-N-acetylhexosaminidase that hydrolyzes terminal N-acetylglucosamine on the N-glycan core.A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease).Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile PatientsSequence analysis of the beta-N-acetylhexosaminidase gene of Vibrio vulnificus: evidence for a common evolutionary origin of hexosaminidases.Molecular cloning of the gene which encodes beta-N-acetylglucosaminidase from a marine bacterium, Alteromonas sp. strain O-7.Purification and characterization of thermostable beta-N-acetylhexosaminidase of Bacillus stearothermophilus CH-4 isolated from chitin-containing compostA rare TaqI RFLP immediately 3' of the HEXB gene on chromosome 5.Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.Gene structure and 5'-upstream sequence of rat cathepsin L.The chitin catabolic cascade in the marine bacterium Vibrio furnissii. Molecular cloning, isolation, and characterization of a periplasmic beta-N-acetylglucosaminidase.
P2860
Q24529537-DFFA7696-9DF1-4F93-962F-E594028AECC4Q24540284-8E43333A-8DC5-4F12-8D74-C3FD4D5F1C63Q24564840-50C7BBFB-F0A3-4786-8B7E-C3EB6FBE224EQ24618126-F8AD858A-9833-44A8-8FFC-C031BC304D73Q24669715-DA05D422-EFDA-48B2-A28E-84853D4FC7C6Q28276205-890C42AE-7605-4ACB-BE81-0FED0AC1EE0EQ31063973-B46A37FF-B2EA-47B6-B752-926BB613A6DEQ31170911-3C8685BB-BE86-48CD-9019-6AFAB7B6FFEDQ33242903-2CA6F575-F828-4C15-ABA9-3609E6D370B9Q35198500-6CE36C95-D844-41FB-ABBF-5ACB753A2DF0Q35238535-4ABB6A11-A9A7-4863-AC38-3E16C993D095Q35833917-74E796B2-18FE-4DA5-93EA-B597EFF96D27Q36348961-38C1930F-F497-414A-815B-D8C7E955F282Q36429539-D7D2C843-4B51-4B61-B6E1-7A071E83280CQ39797109-CF5AECAB-A15D-44EA-B247-CA39EC6C5641Q39915814-4F4DB124-F6CE-44A7-93A5-7641CB2FF603Q40448302-99013DCA-B3E3-4257-AC2D-043DCE62FC02Q41642105-4284963C-8A98-48B9-BD5A-FCBD37567BE2Q42702141-3EFF1630-0395-4088-877E-EA27E1E65802Q44004331-2E677321-1729-4411-9193-9F48D64935F7Q44638277-81613C08-3ABE-4A44-A6E8-557F0D2BA402Q46984019-58EDD677-4A68-491A-B123-CD1FC33B2256Q48056560-9321C10C-0FC1-43ED-9B7F-260655766551
P2860
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年学术文章
@wuu
1988年学术文章
@zh
1988年学术文章
@zh-cn
1988年学术文章
@zh-hans
1988年学术文章
@zh-my
1988年学术文章
@zh-sg
1988年學術文章
@yue
1988年學術文章
@zh-hant
name
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
@en
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
@nl
type
label
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
@en
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
@nl
prefLabel
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
@en
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
@nl
P2093
P1433
P1476
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
@en
P2093
Dumbrille-Ross A
Mahuran DJ
Schuster SM
P304
P356
10.1016/0888-7543(88)90116-4
P577
1988-11-01T00:00:00Z