GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients
about
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosisDiagnosis of inherited metabolic disorders affecting the nervous systemExpansion of genetic testing in the division of functional genomics, research center for bioscience and technology, tottori university from 2000 to 2013.Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.Carrier rates of four single-gene disorders in Croatian Bayash Roma.MPS IV - Morquio syndrome B
P2860
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P2860
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@ast
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@en
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@nl
type
label
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@ast
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@en
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@nl
prefLabel
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@ast
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@en
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@nl
P2093
P2860
P1476
GM1-gangliosidosis (genetic be ...... otypes among Japanese patients
@en
P2093
P2860
P304
P407
P577
1991-09-01T00:00:00Z