Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients

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Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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Novel Mutations in Sandhoff Di ...... n Cohort of Infantile Patients

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Novel Mutations in Sandhoff Di ...... n Cohort of Infantile Patients

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Item

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Novel Mutations in Sandhoff Di ...... n Cohort of Infantile Patients

@ast

Novel Mutations in Sandhoff Di ...... n Cohort of Infantile Patients

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Novel Mutations in Sandhoff Di ...... n Cohort of Infantile Patients

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Novel Mutations in Sandhoff Di ...... n Cohort of Infantile Patients

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P1476

Novel Mutations in Sandhoff Di ...... n Cohort of Infantile Patients

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P2093

H Aryan

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K Banihashemi

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M Houshmand

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O Aryani

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T Zaman

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P2860

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

Phylogenetic analyses suggest multiple changes of substrate specificity within the glycosyl hydrolase 20 family.

Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease).

Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.

Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS.

Molecular basis of heat labile hexosaminidase B among Jews and Arabs.

P304

112-118

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scholarly article

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2012-03-31T00:00:00Z

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23113155

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3481711

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