Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism. (Q34327046)

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22 January 2020

title

Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism (English)

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22 January 2020

5

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22 January 2020

Camillo Rosano

6

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22 January 2020

author name string

Alessandra Zanetti

1

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22 January 2020

Elena Ferraresi

2

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22 January 2020

Luigi Picci

3

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22 January 2020

Mirella Filocamo

4

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22 January 2020

Rosella Tomanin

7

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22 January 2020

Maurizio Scarpa

8

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publication date

4 March 2009

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European Journal of Human Genetics

22 January 2020

published in

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22 January 2020

volume

17

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22 January 2020

page(s)

1160-1164

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22 January 2020

issue

9

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https://scigraph.springernature.com/pub.10.1038/ejhg.2009.19

22 January 2020

exact match

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cites work

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

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CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening

6 July 2018

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UCSF Chimera--a visualization system for exploratory research and analysis

6 July 2018

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Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase

6 July 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

6 July 2018

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Structure of a human lysosomal sulfatase

6 July 2018

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Improved methods for building protein models in electron density maps and the location of errors in these models

6 July 2018

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Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening

6 July 2018

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Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients

6 July 2018

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Mutational analysis of 105 mucopolysaccharidosis type VI patients

21 January 2018

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Maroteaux-lamy syndrome: five novel mutations and their structural localization.

21 January 2018

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Standardizing mutation nomenclature: why bother?

21 January 2018

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The assay of arylsulphatases A and B in human urine

21 January 2018

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12 December 2020

An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum

1 reference

12 December 2020

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations

1 reference

12 December 2020

Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.19

1 reference

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release_d7mdcqc3lzaj7huh326lljzppq

22 January 2020

Fatcat ID

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Fatcat

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24 November 2022

mapped directly with Wikidata item

1 reference

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22 January 2020

1 reference