Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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2054-345X
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
-
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
- Urheber
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Irahara-Miyana, Kaori
- Beteiligte Personen und Organisationen
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Enokizono, Takashi
Ozono, Keiichi
Sakai, Norio
SpringerLink (Online service)
- DOI
-
10.1038/s41439-018-0027-5
- URN
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urn:nbn:de:101:1-2018111418595786488681
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:44 MESZ
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Beteiligte
- Irahara-Miyana, Kaori
- Enokizono, Takashi
- Ozono, Keiichi
- Sakai, Norio
- SpringerLink (Online service)
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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
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Emerging genotype–phenotype relationships in patients with large NF1 deletions
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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
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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
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Mitochondrial genome deletions and minicircles are common in lice (Insecta: Phthiraptera)
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