A first British case of fish-eye disease presenting at age 75 years: A double heterozygote for defined and new mutations affecting LCAT structure and expression

Journal of Clinical Pathology

Volumn 52, Issue 3, 1999, Pages 228-230

  Winder, A F ^a   Owen, J S ^d   Pritchard, P H ^c   Lloyd Jones, D ^d   Vallance, D T ^a   White, P ^d   Wray, R ^b  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b East Sussex Healthcare NHS Trust   (United Kingdom)

^c ST PAUL S HOSPITAL   (Canada)

^d NONE

Author keywords

Corneal opacification; Familial LCAT deficiency; Fish eye disease; LCAT gene mutation

Indexed keywords

LOW DENSITY LIPOPROTEIN; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

AGED; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CORNEA OPACITY; ENZYME DEFICIENCY; ENZYME SPECIFICITY; ESTERIFICATION; FAMILIAL DISEASE; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPOBETALIPOPROTEINEMIA; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SYNDROME;

EID: 0033027795     PISSN: 00219746     EISSN: None     Source Type: Journal    
DOI: 10.1136/jcp.52.3.228     Document Type: Article

References (10)

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