Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy

Amyloid

Volumn 20, Issue 4, 2013, Pages 221-225

  González Duarte, Alejandra ^a   Lem Carrillo, Mónica ^a   Cárdenas Soto, Karla ^a  

^a INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

Author keywords

Amyloidosis; TTR Gly47Ala; TTR Ser50Arg; TTR Ser52Pro

Indexed keywords

AMYLOID; PREALBUMIN;

ABDOMINAL DISTENSION; ADULT; ANHIDROSIS; ARTICLE; ARTIFICIAL HEART PACEMAKER; AUTONOMIC NEUROPATHY; CONSTIPATION; DIARRHEA; DIASTOLIC DYSFUNCTION; DRY EYE; DRY SKIN; DYSHIDROSIS; DYSPNEA; ERECTILE DYSFUNCTION; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENEALOGY; GENETIC SCREENING; HEART AMYLOIDOSIS; HEART ARRHYTHMIA; HEART BUNDLE BRANCH BLOCK; HEART LEFT VENTRICLE HYPERTROPHY; HEART RATE VARIABILITY; HEART VENTRICLE HYPERTROPHY; HETEROZYGOTE; HISTORY OF MEDICINE; HUMAN; HYPESTHESIA; MAJOR CLINICAL STUDY; MALE; MOTOR NEUROPATHY; MUSCLE WEAKNESS; NEOVASCULAR GLAUCOMA; NERVE CONDUCTION; NEUROPATHIC PAIN; ONSET AGE; OPHTHALMOSCOPY; ORTHOSTATIC HYPOTENSION; PAIN THRESHOLD; PARESTHESIA; PRIORITY JOURNAL; PROSPECTIVE STUDY; PULMONARY HYPERTENSION; RETINA ISCHEMIA; SENSORY NEUROPATHY; SYSTOLIC DYSFUNCTION; TRANSTHORACIC ECHOCARDIOGRAPHY; URINE RETENTION; VALVULAR HEART DISEASE; WALKING DIFFICULTY; WEIGHT REDUCTION; WHEELCHAIR; XEROSTOMIA;

ADULT; AMYLOID NEUROPATHIES, FAMILIAL; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PREALBUMIN;

EID: 84888029779     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.3109/13506129.2013.827110     Document Type: Article

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