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Titolo:
LINKAGE OF THE GENE FOR THE TRIPLE-A-SYNDROME TO CHROMOSOME 12Q13 NEAR THE TYPE-II KERATIN GENE-CLUSTER
Autore:
WEBER A; WIENKER TF; JUNG M; EASTON D; DEAN HJ; HEINRICHS C; REIS A; CLARK AJL;
Indirizzi:
UNIV HOSP DRESDEN,DEPT PAEDIAT D-01307 DRESDEN GERMANY UNIV CAMBRIDGE,DEPT COMMUNITY MED,INST PUBL HLTH CAMBRIDGE CB2 2SR ENGLAND UNIV MANITOBA,DEPT PEDIAT WINNIPEG MB R3A 0Z2 CANADA FREE UNIV BRUSSELS,CHILDRRENS HOSP QUEEN FABIOLA BRUSSELS BELGIUM HUMBOLDT UNIV BERLIN,INST HUMAN GENET D-13353 BERLIN GERMANY UNIV LONDON ST BARTHOLOMEWS HOSP MED COLL,DEPT CHEM ENDOCRINOL LONDONEC1A 7BE ENGLAND MAX DELBRUCK CTR MOL MED,MICROSATELLITE CTR D-13122 BERLIN GERMANY
Titolo Testata:
Human molecular genetics
fascicolo: 12, volume: 5, anno: 1996,
pagine: 2061 - 2066
SICI:
0964-6906(1996)5:12<2061:LOTGFT>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL GLUCOCORTICOID DEFICIENCY; POSITIONAL CLONING; ACHALASIA; ALACRIMA; MUTATION; RECEPTOR; DISEASE; GENOME; HUMANS; MAP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
33
Recensione:
Indirizzi per estratti:
Citazione:
A. Weber et al., "LINKAGE OF THE GENE FOR THE TRIPLE-A-SYNDROME TO CHROMOSOME 12Q13 NEAR THE TYPE-II KERATIN GENE-CLUSTER", Human molecular genetics, 5(12), 1996, pp. 2061-2066

Abstract

The triple A or Allgrove's syndrome (MIM231550) is an autosomal recessive disease characterized by the triad of adrenocorticotropic hormone (ACTH) resistant adrenal insufficiency, achalasia and alacrima, Since its first description by Allgrove al al, (1978) more than 70 cases from all over the world have been reported, The syndrome manifests itself during the first decade of life with severe hypoglycaemic episodes which can cause sudden death, The frequent association with neurological disorders presenting as a mixed pattern of upper and lower motor neuropathy, sensory impairment, autonomic neuropathy and mental retardation may result in a severely disabling disease, As an additional feature some patients have hyperkeratosis of their palms and soles, We haveperformed a systematic genome linkage scan in eight triple A familiesof which three were consanguineous [including the large highly inbredkindred described by Moore al al. (1991)], We obtained conclusive evidence for linkage of the triple A syndrome locus to markers on chromosome 12q13 (D12S368, theta(max) = 0, Z(max) = 10.81) with no indicationof genetic heterogeneity, Haplotype and multipoint analyses suggest that the gene is located on a chromosomal segment flanked by the markers D12S1629 and D12S312 which are 6 cM apart, This region harbors the type II keratin gene cluster, and potential candidate genes include SCN8A and HOXC genes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 14:53:37