Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2054-345X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients ; volume:5 ; number:1 ; day:5 ; month:10 ; year:2018 ; pages:1-4 ; date:12.2018
Human genome variation ; 5, Heft 1 (5.10.2018), 1-4, 12.2018

Creator: Irahara-Miyana, Kaori

Contributor: Enokizono, Takashi
Ozono, Keiichi
Sakai, Norio
SpringerLink (Online service)

DOI: 10.1038/s41439-018-0027-5

URN: urn:nbn:de:101:1-2018111418595786488681

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:44 AM CEST

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Irahara-Miyana, Kaori
Enokizono, Takashi
Ozono, Keiichi
Sakai, Norio
SpringerLink (Online service)

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Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients

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Other Objects (12)

Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma

Chromosomal amplifications, 3q gain and deletions of 2q33-q37 are the frequent genetic changes in cervical carcinoma

Terminal 18q deletions are stabilized by neotelomeres

Immunoglobulin abnormalities are frequent in patients with lupus nephritis

New CACNA1A deletions are associated to migraine phenotypes

Frequent CHD1 deletions in prostate cancers of African American men is associated with rapid disease progression

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Frequent gross deletions in pol gene in 10 HIV-1 infected patients treated with Korean red ginseng for 3 years: dosage dependency

Mitochondrial genome deletions and minicircles are common in lice (Insecta: Phthiraptera)

Functional neurological symptoms are a frequent and relevant comorbidity in patients with multiple sclerosis

Emerging genotype–phenotype relationships in patients with large NF1 deletions

Analysis of mitochondrial DNA deletions in patients with ideopathic myositis

Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma

Chromosomal amplifications, 3q gain and deletions of 2q33-q37 are the frequent genetic changes in cervical carcinoma

Terminal 18q deletions are stabilized by neotelomeres

Immunoglobulin abnormalities are frequent in patients with lupus nephritis

New CACNA1A deletions are associated to migraine phenotypes

Frequent CHD1 deletions in prostate cancers of African American men is associated with rapid disease progression

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Frequent gross deletions in pol gene in 10 HIV-1 infected patients treated with Korean red ginseng for 3 years: dosage dependency

Mitochondrial genome deletions and minicircles are common in lice (Insecta: Phthiraptera)

Functional neurological symptoms are a frequent and relevant comorbidity in patients with multiple sclerosis

Emerging genotype–phenotype relationships in patients with large NF1 deletions

Analysis of mitochondrial DNA deletions in patients with ideopathic myositis

Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma

Chromosomal amplifications, 3q gain and deletions of 2q33-q37 are the frequent genetic changes in cervical carcinoma

Terminal 18q deletions are stabilized by neotelomeres

Immunoglobulin abnormalities are frequent in patients with lupus nephritis

New CACNA1A deletions are associated to migraine phenotypes

Frequent CHD1 deletions in prostate cancers of African American men is associated with rapid disease progression

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Frequent gross deletions in pol gene in 10 HIV-1 infected patients treated with Korean red ginseng for 3 years: dosage dependency

Mitochondrial genome deletions and minicircles are common in lice (Insecta: Phthiraptera)

Functional neurological symptoms are a frequent and relevant comorbidity in patients with multiple sclerosis

Emerging genotype–phenotype relationships in patients with large NF1 deletions

Analysis of mitochondrial DNA deletions in patients with ideopathic myositis

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