Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1

Human Molecular Genetics

Volumn 11, Issue 13, 2002, Pages 1569-1579

  Berger, Philipp ^a   Bonneick, Sonja ^a   Willi, Susan ^a   Wymann, Matthias ^b   Suter, Ueli ^a  

^a ETH ZURICH   (Switzerland)

^b UNIVERSITY OF FRIBOURG   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GLYCEROPHOSPHOLIPID; MYOTUBULARIN; MYOTUBULARIN RELATED PROTEIN 2; PHOSPHATASE; PHOSPHATIDYLINOSITOL 3 PHOSPHATE; PHOSPHATIDYLINOSITOL 3,5 BISPHOSPHATE; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; BRAIN NERVE CELL; CELL INTERACTION; CENTRAL NERVOUS SYSTEM FUNCTION; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; DEMYELINATION; DEPHOSPHORYLATION; DISEASE SEVERITY; ENDOCYTOSIS; EXOCYTOSIS; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; MEMBRANE TRANSPORT; MOUSE; MYELIN SHEATH; NERVE FIBER; NONHUMAN; PERIPHERAL NERVE; PH; PRIORITY JOURNAL; PROTEIN FAMILY; SCHWANN CELL; X CHROMOSOME LINKED DISORDER;

ANIMALIA;

EID: 0037096759     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.13.1569     Document Type: Article

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