Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein

Journal of Medical Genetics

Volumn 44, Issue 10, 2007, Pages 641-646

  Kim, Byung Eun ^a   Petris, Michael J ^a  

^a UNIVERSITY OF MISSOURI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MENKES PROTEIN;

ANIMAL CELL; ARTICLE; CATALYSIS; CELL MEMBRANE; CONTROLLED STUDY; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; GENE MUTATION; GENETIC VARIABILITY; GLYCOSYLATION; MENKES SYNDROME; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION;

ADENOSINE TRIPHOSPHATASES; ANIMALS; CATION TRANSPORT PROTEINS; ENDOPLASMIC RETICULUM; GOLGI APPARATUS; MENKES KINKY HAIR SYNDROME; MICE; MICROSCOPY, FLUORESCENCE; MODELS, BIOLOGICAL; MODELS, GENETIC; MUTATION; PHENOTYPE; PHOSPHORYLATION; PLASMIDS; PROTEIN DISULFIDE-ISOMERASE; PROTEIN TRANSPORT;

MUS;

EID: 35348843369     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.049627     Document Type: Article

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