A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
about
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A geneMetachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.Retinal sphingolipids and their very-long-chain fatty acid-containing species.Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase geneThe Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs diseaseMolecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant.
P2860
Q33678969-5000F0D6-7414-41BA-B456-452342EEEF6EQ33682593-FB94918B-2B1D-41E8-AA1A-966893B9AF28Q34135588-C8F2BC00-7C15-4E25-B3E8-344FB65E07F0Q34389720-4715D3D2-5196-4002-B73C-BCB07C490244Q35889170-713E6ED9-F627-4F8B-90B5-E861A9DC481DQ38356213-9E6DAF13-892C-4250-BEBF-5E9B386D4148Q42559244-232F382E-DAE7-473C-9B28-53C4183FC186
P2860
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
A double mutation in exon 6 of ...... variant of Tay-Sachs disease.
@en
type
label
A double mutation in exon 6 of ...... variant of Tay-Sachs disease.
@en
prefLabel
A double mutation in exon 6 of ...... variant of Tay-Sachs disease.
@en
P2860
P1476
A double mutation in exon 6 of ...... 1 variant of Tay-Sachs disease
@en
P2093
Ainsworth PJ
Coulter-Mackie MB
P2860
P304
P407
P577
1992-10-01T00:00:00Z