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  • 1-7 ل  7 نتائج ل ""Myelin Proteins""

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Publication : journal of human genetics
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Academic Journal

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

  • Authors : Kim SM; Department of Biological Science, Kongju National University, Gongju, Korea.; Lee J

Subjects: Gene Dosage* ; Gene Duplication*; Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2015 Feb; Vol. 60 (2), pp. 103-6. Date of Electronic Publication: 2014 Dec 11.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

  • Authors : Abe A; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.; Numakura C

Subjects: Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/*diagnosis ; Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/*genetics; Adolescent

  • Source: Journal of human genetics [J Hum Genet] 2011 May; Vol. 56 (5), pp. 364-8. Date of Electronic Publication: 2011 Feb 17.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.

  • Authors : Abe A; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.; Nakamura K

Subjects: Gene Deletion* ; Heterozygote*; Exons/Exons/Exons/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2010 Nov; Vol. 55 (11), pp. 771-3. Date of Electronic Publication: 2010 Aug 26.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.

  • Authors : Lin CY; Institute of Biomedical Engineering, National Taiwan University, Taipei, Taiwan.; Su YN

Subjects: Gene Dosage*; Chromatography, High Pressure Liquid/Chromatography, High Pressure Liquid/Chromatography, High Pressure Liquid/*methods ; Myelin Proteins/Myelin Proteins/Myelin Proteins/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2006; Vol. 51 (3), pp. 227-235. Date of Electronic Publication: 2006 Feb 04.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.

Subjects: GENETIC mutation; BONE resorption; METALLOPROTEINASESEAST Asia

  • Source: Journal of Human Genetics; Nov2010, Vol. 55 Issue 11, p764-766, 3p, 1 Black and White Photograph, 1 Chart

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Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan

Subjects: Adult; Male; Oncology

  • Source: Journal of Human Genetics. 56:364-368

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Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

Subjects: Genetics; congenital, hereditary, and neonatal diseases and abnormalities; Heterozygote

  • Source: Journal of human genetics. 55(11)

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  • 1-7 ل  7 نتائج ل ""Myelin Proteins""