Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis

Brain

Volumn 122, Issue 2, 1999, Pages 183-190

  Brett, Matthew ^a   Persey, M R ^a   Reilly, M M ^b   Revesz, T ^b   Booth, D R ^a   Booth, S E ^a   Hawkins, P N ^a   Pepys, M B ^a   Morgan Hughes, J A ^b  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Familial amyloid polyneuropathy; Oculoleptomeningeal amyloidosis; Transthyretin

Indexed keywords

MUTANT PROTEIN; PREALBUMIN;

ADULT; AMYLOID NEUROPATHY; AMYLOIDOSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONSCIOUSNESS DISORDER; DEPRESSION; EPENDYMA; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; HEART AMYLOIDOSIS; HISTOPATHOLOGY; HUMAN; HYPOVENTILATION; LIVER DISEASE; MENINX; MENINX DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN VARIANT; RADICULOPATHY; SEIZURE; SUBARACHNOID HEMORRHAGE; WHOLE BODY SCINTISCANNING;

ADULT; AMYLOID NEUROPATHIES; EPENDYMA; EXONS; FEMALE; GADOLINIUM; HUMANS; IODINE RADIOISOTOPES; KIDNEY; LEUCINE; LIVER; MAGNETIC RESONANCE IMAGING; MENINGES; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; PREALBUMIN; PROLINE; SEQUENCE ANALYSIS, DNA; SERUM AMYLOID P-COMPONENT; SPLEEN; VARIATION (GENETICS);

EID: 0032944025     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/122.2.183     Document Type: Article

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