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Titolo:
HOMOZYGOUS HEREDITARY CLQ DEFICIENCY AND SYSTEMIC LUPUS-ERYTHEMATOSUS- A NEW FAMILY AND THE MOLECULAR-BASIS OF CLQ DEFICIENCY IN 3 FAMILIES
Autore:
SLINGSBY JH; NORSWORTHY P; PEARCE G; VAISHNAW AK; ISSLER H; MORLEY BJ; WALPORT MJ;
Indirizzi:
HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT MED,RHEUMATOL UNIT,DU CANE RD LONDON W12 0NN ENGLAND HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT MED,RHEUMATOL UNIT LONDON W12 0NN ENGLAND BROOK GEN HOSP LONDON SE18 4LW ENGLAND
Titolo Testata:
Arthritis and rheumatism
fascicolo: 4, volume: 39, anno: 1996,
pagine: 663 - 670
SICI:
0004-3591(1996)39:4<663:HHCDAS>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUBCOMPONENT C1Q; B-CHAIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
J.H. Slingsby et al., "HOMOZYGOUS HEREDITARY CLQ DEFICIENCY AND SYSTEMIC LUPUS-ERYTHEMATOSUS- A NEW FAMILY AND THE MOLECULAR-BASIS OF CLQ DEFICIENCY IN 3 FAMILIES", Arthritis and rheumatism, 39(4), 1996, pp. 663-670

Abstract

Objective. To describe a new kindred with Clq deficiency and to identify the molecular lesions responsible for complete functional Clq deficiency in this and 2 other previously described kindreds. Methods. TheA-, B-, and C-chain genes of C1q were amplified by polymerase chain reaction, cloned, and sequenced. The DNA sequence was checked for mutations. Results. Patient 1 had a homozygous G-to-A change at codon 6 of the C chain, causing an amino acid change from Gly to Arg. Patient 2 had a homozygous deletion of a C nucleotide at codon 43 of the C-chain,causing a frame shift, leading to a premature stop codon at codon 108, Patient 3 had a homozygous C-to-T mutation at amino acid position 41of the C chain, resulting in a premature stop codon. Conclusion. In the homozygous state, the mutations are sufficient to cause complete deficiency of Clq. The mutation in patient 1 has been previously reported in a patient of different ethnic origin, A survey of a series of 158DNA samples from patients with systemic lupus erythematosus showed noother examples of this mutant allele.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 04:14:22