(Q28306576)

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

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title

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

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main subject

patient

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genotype-phenotype correlation

1 reference

1 reference

Chengzhe Xu

1

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Norio Sakai

series ordinal

2

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Masako Taniike

series ordinal

3

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Koji Inui

series ordinal

4

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Keiichi Ozono

series ordinal

5

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language of work or name

English

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publication date

2006

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published in

Journal of Human Genetics

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volume

51

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issue

6

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page(s)

548-54

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cites work

Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS10038-006-0396-3

retrieved

21 January 2018

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular heterogeneity of Krabbe disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defects in Krabbe disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16607461

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

(Q28306576)

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

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