(Q24604845)

12

0 references

Matthew Mort

3

object named as

Matthew Mort

0 references

author name string

Barbara Tappino

1

0 references

Roberta Biancheri

2

0 references

Stefano Regis

4

0 references

Fabio Corsolini

5

0 references

Marina Stroppiano

7

0 references

Susanna Lualdi

8

0 references

Agata Fiumara

9

0 references

Bruno Bembi

10

0 references

Maja Di Rocco

11

0 references

Mirella Filocamo

Accurate whole human genome sequencing using reversible terminator chemistry

13

0 references

language of work or name

English

0 references

publication date

December 2010

0 references

published in

Human Mutation

0 references

volume

31

0 references

issue

12

0 references

page(s)

E1894-914

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Structure and organization of the human galactocerebrosidase (GALC) gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Molecular basis of late-life globoid cell leukodystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Molecular heterogeneity of Krabbe disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Automated inference of molecular mechanisms of disease from amino acid substitutions.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Splicing regulation as a potential genetic modifier

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Prevalence of lysosomal storage disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Characterization of the large deletion in the GALC gene found in patients with Krabbe disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

The Human Gene Mutation Database: 2008 update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Expression and processing of recombinant human galactosylceramidase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Standardizing mutation nomenclature: why bother?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052420

Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders

28 November 2018

1 reference

12 December 2020

Galactocerebrosidase from human urine: purification and partial characterization

1 reference

12 December 2020

Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease

1 reference

12 December 2020

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21367

1 reference

1 reference

1 reference

PubMed publication ID

20886637

1 reference