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8 results for CLCN7+variant

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ArticlesPeer ReviewedFull Text
Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis
Author / Creator:Bug, Dmitrii S ; Barkhatov, Ildar M ; Gudozhnikova, Yana V ; Tishkov, Artem V ; Zhulin, Igor B ; Petukhova, Natalia V
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2020-11, Vol.11 (11), p.1242
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ArticlesPeer ReviewedFull Text
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis
Author / Creator:Lee, Chung‐Lin ; Chang, Yeun‐Wen ; Lin, Hsiang‐Yu ; Lee, Hung‐Chang ; Yeh, Ting‐Chi ; Fang, Li‐Ching ; Lee, Ni‐Chung ; Tsai, Jeng‐Daw ; Lin, Shuan‐Pei
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2494-n/a
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ReportsFull Text
Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis
Author / Creator:Bug, Dmitrii S ; Barkhatov, Ildar M ; Gudozhnikova, Yana V ; Tishkov, Artem V ; Zhulin, Igor B ; Petukhova, Natalia V
Journal title:Genes, 2020, Vol.11 (11)
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ArticlesFull Text
Bioinformatics Research Center Researchers Yield New Study Findings on Osteopetrosis (Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2020-11, p.687
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ArticlesFull Text
New Hypopigmentation Findings from National Institute of Neurological Disorders and Stroke Outlined (Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2019-06, p.334
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Newsletter articlesFull Text
Skin Diseases and Conditions - Hypopigmentation; New Hypopigmentation Findings from National Institute of Neurological Disorders and Stroke Outlined (Lysosomal Storage and Albinism Due to Effects of a...
Publisher:Atlanta: NewsRx
Journal title:Pediatrics Week, 2019, p.334
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ArticlesPeer ReviewedFull Text
The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants
Author / Creator:Cao, Xu ; Lenk, Guy M ; Mikusevic, Vedrana ; Mindell, Joseph A ; Meisler, Miriam H
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2023-06, Vol.19 (6), p.e1010800-e1010800
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ArticlesPeer ReviewedFull Text
Osteopetrosis - A Case Series Exploring Complications and Multidisciplinary Management
Author / Creator:Stewart, Catherine ; Loughrey, Paul Benjamin ; Lindsay, John R
Publisher:US: Oxford University Press
Journal title:Journal of the Endocrine Society, 2021-05, Vol.5 (Supplement_1), p.A209-A209
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Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis

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Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis

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Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis

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Bioinformatics Research Center Researchers Yield New Study Findings on Osteopetrosis (Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis)

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New Hypopigmentation Findings from National Institute of Neurological Disorders and Stroke Outlined (Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification...

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Skin Diseases and Conditions - Hypopigmentation; New Hypopigmentation Findings from National Institute of Neurological Disorders and Stroke Outlined (Lysosomal Storage and Albinism Due to Effects of a...

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The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants

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Osteopetrosis - A Case Series Exploring Complications and Multidisciplinary Management

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