Tangier disease phenotype diversity in dizygous twin sisters

Revue Neurologique

Volumn 166, Issue 5, 2010, Pages 534-537

  Pichit, P ^a   Quillard, M ^a   Couvert, P ^b,c   Senant J ^a   Carrie A ^b,c   Bittar, R ^b   Hannequin, D ^a   Guyant Marechal L ^a  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c SORBONNE UNIVERSITÉ   (France)

Author keywords

ABCA1; Phenotype diversity; Tangier disease

Indexed keywords

ALIMEMAZINE; HIGH DENSITY LIPOPROTEIN; LITHIUM; MEPROBAMATE; PHENYTOIN;

ABCA1 GENE; ADULT; ARM WEAKNESS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CORNEA OPACITY; DIZYGOTIC TWINS; DYSESTHESIA; FEMALE; GENE; GENE SEQUENCE; HUMAN; MACROCYTIC ANEMIA; PHENOTYPIC VARIATION; SEQUENCE ANALYSIS; SPLENOMEGALY; SYMPTOM; TANGIER DISEASE; THROMBOCYTOPENIA;

ATP-BINDING CASSETTE TRANSPORTERS; BIOPSY; DEMYELINATING DISEASES; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FEMALE; HORMONES; HUMANS; LIPIDS; MIDDLE AGED; NERVE FIBERS; PHENOTYPE; SCHWANN CELLS; SENSORY RECEPTOR CELLS; TANGIER DISEASE; TWINS, DIZYGOTIC;

EID: 77953232696     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2009.12.001     Document Type: Article

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