Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
about
Multi-system disorders of glycosphingolipid and ganglioside metabolismMutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.Misfolded endoplasmic reticulum retained subunits cause degradation of wild-type subunits of arylsulfatase A heteromers.Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
P2860
Q33902037-6FCE4A97-44FF-4CCB-8027-017B2A718EFAQ38606200-5E1DFCD6-AA1F-411C-AAC5-2EEB93AD3390Q39677889-57B1666B-994D-4ECB-8478-BB3CFF79C05EQ40088069-0A2DBCBE-4C2D-4FE8-8D15-F4A44F0DCE31Q40888848-60E905A8-852A-4F75-BDFF-FA9506246A5DQ42125367-0026394B-AA04-4724-BE46-156DE4DEAAE5Q47632384-204075D2-1A7E-4DD5-A1BF-A4F9845E77A5
P2860
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh
1996年學術文章
@zh-hant
name
Characterization of two arylsu ...... metachromatic leukodystrophy.
@en
type
label
Characterization of two arylsu ...... metachromatic leukodystrophy.
@en
prefLabel
Characterization of two arylsu ...... metachromatic leukodystrophy.
@en
P2093
P1433
P1476
Characterization of two arylsu ...... metachromatic leukodystrophy.
@en
P2093
P304
P356
10.1002/(SICI)1098-1004(1996)7:4<311::AID-HUMU4>3.0.CO;2-B
P577
1996-01-01T00:00:00Z