Hereditary renal amyloidosis associated with variant lysozyme in a large English family

Nephrology Dialysis Transplantation

Volumn 14, Issue 11, 1999, Pages 2639-2644

  Gillmore, Julian D ^a   Booth, David R ^a   Madhoo, S ^a   Pepys, Mark B ^a   Hawkins, Philip N ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Amyloid; Amyloidosis; Hereditary lysozyme amyloidosis; Lysozyme

Indexed keywords

AMYLOID; ASPARTIC ACID; HISTAMINE; ISOLEUCINE; LYSOZYME; MUTANT PROTEIN; NUCLEIC ACID; SERUM AMYLOID P; THREONINE;

ADULT; ARTICLE; CAUSE OF DEATH; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILIAL DISEASE; FAMILY HISTORY; FAMILY STUDY; FEMALE; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC DISORDER; HEREDITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; KIDNEY AMYLOIDOSIS; KIDNEY BIOPSY; LIVER HEMORRHAGE; LIVER RUPTURE; MALE; MEDICAL DOCUMENTATION; NUCLEIC ACID BASE SUBSTITUTION; PETECHIA; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEINURIA; SEQUENCE ANALYSIS; UNITED KINGDOM; WHOLE BODY SCINTISCANNING;

EID: 0033281401     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/14.11.2639     Document Type: Article

References (21)

1. Amyloidosis
2. New USA family has apolipoprotein AI (Arg26) variant
3. Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis
4. Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26
5. A new apolipoprotein AI variant, Trp50Arg, causes hereditary amyloidosis
6. Hereditary renal amyloidosis associated with a mutant fibrinogen α-chain
7. Hereditary renal amyloidosis with a novel variant fibrinogen
8. Human lysozyme gene mutations cause hereditary systemic amyloidosis
9. Refinement of human lysozyme at 1.5Å resolution analysis of non-bonded and hydrogen-bond interactions
10. Instability, unfolding, and aggregation of human lysozyme variants underlying amyloid fibrillogenesis
11. Familial nephropathic non-neuropathic amyloidosis: Clinical features, immunohistochemistry and chemistry
12. Imaging amyloidosis with radiolabelled SAP
13. On the binding of Congo red by amyloid
14. Familial nephropathic amyloidosis associated with indomethacin responsive fever
15. Familial amyloidosis of Ostertag
16. The human lysozyme gene. Sequence organization and chromosomal localization
17. 'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis
18. Transthyretin amyloidosis. Amyloid
19. 30)
20. Serum amyloid P component scintigraphy in familial amyloid polyneuropathy: Regression of visceral amyloid following liver transplantation
21. A new deletion mutation of the apolipoprotein AI gene causing hereditary amyloidosis