scholarly journals A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C

2007 ◽  
Vol 52 (7) ◽  
pp. 599-606 ◽  
Author(s):  
Avraham Zeharia ◽  
Merel S. Ebberink ◽  
Ronald J. A. Wanders ◽  
Hans R. Waterham ◽  
Alisa Gutman ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Peroxisomal Biogenesis ◽  
Mild Clinical Phenotype ◽  
Peroxisomal Biogenesis Disorder ◽  
Biochemical Abnormalities

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder

2010 ◽  
Vol 152A (9) ◽  
pp. 2318-2321 ◽  
Author(s):  
Sarar Mohamed ◽  
Ebtisam El-Meleagy ◽  
Abdelhaleem Nasr ◽  
Merel S. Ebberink ◽  
Ronald J.A. Wanders ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder

Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype

2016 ◽  
Vol 55 (1) ◽  
pp. 46-50 ◽  
Author(s):  
Roser Pons ◽  
Kyriaki Kekou ◽  
Artemis Gkika ◽  
George Papadimas ◽  
Nikolaos Vogiatzakis ◽  
...  
Keyword(s):  
Amino Acid ◽  
Clinical Phenotype ◽  
Single Amino Acid ◽  
Dystrophin Protein ◽  
Mild Clinical Phenotype

Missense mutations inN-acetylglucosamine-1-phosphotransferase α/β subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

2005 ◽  
Vol 137A (3) ◽  
pp. 235-240 ◽  
Author(s):  
Stephan Tiede ◽  
Nicole Muschol ◽  
Gert Reutter ◽  
Michael Cantz ◽  
Kurt Ullrich ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Missense Mutations ◽  
Β Subunit ◽  
Subunit Gene ◽  
Mild Clinical Phenotype

Deletion of chromosomal region Xq28 cause of Hunter syndrome in a patient with mild clinical phenotype

2019 ◽  
Vol 126 (2) ◽  
pp. S156
Author(s):  
Natalia V. Zhurkova ◽  
Kirill Victorovich Savostyanov ◽  
Alexandr Andreevich Pushkov ◽  
Tatiana Vladimirovna Podkletnova ◽  
Nato Dzhumberovna Vashakmadze ◽  
...  
Keyword(s):  
Chromosomal Region ◽  
Clinical Phenotype ◽  
Hunter Syndrome ◽  
Mild Clinical Phenotype

scholarly journals 22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

2020 ◽  
Vol 11 (3) ◽  
pp. 146-152
Author(s):  
Anikó Ujfalusi ◽  
Orsolya Nagy ◽  
Beáta Bessenyei ◽  
Györgyi Lente ◽  
Irén Kántor ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Mild Clinical Phenotype

Presence of a mild clinical phenotype in a kindred with familial WPW

Heart Rhythm ◽  
2005 ◽  
Vol 2 (5) ◽  
pp. S311
Author(s):  
Kathryn A. Glatter ◽  
Nipavan Chiamvimonvat ◽  
Dipika Tuteja ◽  
Anil Singapuri
Keyword(s):  
Clinical Phenotype ◽  
Mild Clinical Phenotype

A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder

2015 ◽  
Vol 42 (9) ◽  
pp. 1359-1363
Author(s):  
Jana Konkoľová ◽  
Robert Petrovič ◽  
Ján Chandoga ◽  
Edita Halasová ◽  
Petra Jungová ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder
Sign in / Sign up

Export Citation Format

Share Document