A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
about
The molecular basis of Sanfilippo syndrome type BA mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstableA pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screeningSix novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individualsNext-generation DNA sequencing of HEXA: a step in the right direction for carrier screeningNAGLU mutations underlying Sanfilippo syndrome type B.Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
P2860
Q24316923-28EEB511-234D-4FF2-AB31-D93500587DCEQ24564644-4EE06696-F759-494B-8C72-895E8216A8D5Q24669715-7CDE256C-2EA6-4ED0-B0BB-A7EB060D16E4Q24670079-B5144040-2173-4D82-9D83-1B106B684E35Q34402430-1B97E6D0-5265-4052-B21A-3A6AE33C4C61Q34453867-594C0717-8344-49A2-A32F-52A5584EA362Q35194898-D306ACC8-14BA-4252-A599-2886B381B8F9Q35195696-A83CF7D8-9A5C-4A48-BD78-817C80E260F7
P2860
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունիսին 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
A third mutation at the CpG di ...... t codon 506 of the HEX A gene.
@ast
A third mutation at the CpG di ...... t codon 506 of the HEX A gene.
@en
type
label
A third mutation at the CpG di ...... t codon 506 of the HEX A gene.
@ast
A third mutation at the CpG di ...... t codon 506 of the HEX A gene.
@en
prefLabel
A third mutation at the CpG di ...... t codon 506 of the HEX A gene.
@ast
A third mutation at the CpG di ...... t codon 506 of the HEX A gene.
@en
P2093
P2860
P1476
A third mutation at the CpG di ...... t codon 506 of the HEX A gene.
@en
P2093
P2860
P304
P407
P577
1991-06-01T00:00:00Z