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Titolo:
Hypophosphatasia: Molecular diagnosis of Rathbun's original case
Autore:
Mumm, S; Jones, J; Finnegan, P; Whyte, MP;
Indirizzi:
Shriners Hosp Children, Ctr Metab Bone Dis & Mol Res, St Louis, MO 63131 USA Shriners Hosp Children St Louis MO USA 63131 Res, St Louis, MO 63131 USA Washington Univ, Sch Med, Barnes Jewish Hosp, Res Inst,Div Bone & Mineral Dis, St Louis, MO USA Washington Univ St Louis MO USA Div Bone & Mineral Dis, St Louis, MO USA
Titolo Testata:
JOURNAL OF BONE AND MINERAL RESEARCH
fascicolo: 9, volume: 16, anno: 2001,
pagine: 1724 - 1727
SICI:
0884-0431(200109)16:9<1724:HMDORO>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALKALINE-PHOSPHATASE GENE; MISSENSE MUTATIONS;
Keywords:
alkaline phosphatase; rickets; osteoblast; inborn error of metabolism; mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Whyte, MP Shriners Hosp Children, Ctr Metab Bone Dis & Mol Res, 2001 S Lindbergh Blvd, St Louis, MO 63131 USA Shriners Hosp Children 2001 S LindberghBlvd St Louis MO USA 63131
Citazione:
S. Mumm et al., "Hypophosphatasia: Molecular diagnosis of Rathbun's original case", J BONE MIN, 16(9), 2001, pp. 1724-1727

Abstract

In 1948, Dr. John Campbell Rathbun characterized the disorder "hypophosphatasia" when he reported paradoxically low levels of alkaline phosphatase (ALP) activity in blood and in several tissues from an infant who died with rickets and epilepsy, which seemed to reflect "a new developmental anomaly. "Hypophosphatasia is now recognized to be an inborn error of metabolism featuring deficient activity of the tissue-nonspecific isoenzyme of ALP (TNSALP) caused by deactivating mutations in TNSALP. Here, we show, more than 50 years after Rathbun's case report, that analysis of the parental DNA indicates compound heterozygosity involving two missense mutations (G340A and A881C) in TNSALP caused the death of Rathbun's patient.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 09:08:25