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《Lancet》1840,34(887):831-832
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An eight year old female is presented with hemophilia A with hemorrhagicsymptoms since three months of age. Family studies revealed sex linked transmission through the maternal lineage.

Chromosome analysis revealed a normal complement with two X chromosomes. Possible genetic mechanisms for this apparent homozygous hemophilicstate derived from a carrier woman and normal father are presented.

Submitted on January 26, 1961 Accepted on March 3, 1961  相似文献   

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中华内分泌代谢杂志1998年第14卷主题词索引   总被引:14,自引:0,他引:14  
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No abstract available for this article.  相似文献   

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In an attempt to gain a better understanding of the mechanism of action of carboxypeptidase A (EC 3.4.2.1), many kinetic studies have been undertaken using numerous substrates-both esters and peptides-that have exhibited substrate linearity, inhibition, activation, and sigmoid-shaped rate plots. Numerous interpretations of the kinetic data have been proposed, none of which are fully in accord both with kinetic data and x-ray crystallographic studies. Much of the kinetic data has been interpreted using multisite binding while the x-ray information seems to severely restrict these possibilities.We have examined the feasibility of a simple model with a single active site, without modifier sites, that allows only one substrate molecule to bind the enzyme at a time. A random-pathway model was identified that simultaneously accounts for the nonlinear kinetic data and meets the restrictions imposed by the x-ray crystallographic studies.  相似文献   

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Abstract. A healthy blood donor was found to have no anti-A in his serum while his red cells typed as O. A maternal half-brother, whose father is not related, lacks anti-B. The pedigree shows that the effect is due to dominant suppression of normal A 1 and B genes.  相似文献   

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Respiratory therapy managers are expected to provide quality patient care while keeping operational expenses at a minimum. One method that has been proposed for achieving this objective is a four-day workweek. Such a system was tried at Samaritan Hospital, Troy, NY, with disappointing results.  相似文献   

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Michael R. Littner 《Lung》1976,154(1):187-194
Eight subjects with asthma were given, orally, increasing doses of W10294A (100, 200, 300 and 400 mg), 300 mg aminophylline and placebo on separate days. Forced expiratory flow rates were measured at hourly intervals for 6 h. Significant increases in mean forced expiratory volume in one second (FEV1) were recorded with the 300 and 400 mg W10294A and 300 mg aminophylline doses compared to placebo. The peak effect of W10294A was recorded at 3 h. The 400 mg W10294A dose resulted in mean FEV1 increases similar to those recorded after the 300 mg aminophylline dose. The mean FEV1 was significantly improved for 6 h by the W10294A. Small but significant increases in mean pulse rate were seen with all doses of W10294A and 300 mg of aminophylline when compared to placebo. Mild headaches or drowsiness were reported by 6 of the 8 subjects after being given W10294A. No headache or drowsiness was reported after 300 mg aminophylline or placebo. We conclude that W10294A causes a dose-related improvement in forced expiratory flow rates and is an effective long-acting bronchodilator with tolerable side-effects when given in single oral doses to asthmatic subjects.  相似文献   

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Zusammenfassung Verfasser gibt die Resultate seiner in 1460 Rechtsfällen an 1500 vermutlichen Vätern unternommenen A1/A2-Untergruppen-Untersuchungen bekannt. In 15 Fällen, bzw. bei 16 Männern (d. h. 1,06% der Männer) gelang es, die Vaterschaft mit Hilfe der Untergruppenbestimmungen auszuschließen. Die absolure Zahl der Vaterschaftsausschließungen kann somit um 0,466%, erhöht werden. Der Verfasser vertritt den Standpunkt, daß, falls die Forderungen streng eingehalten werden, dem Vaterschaftsausschluß auf Grunde der Untergruppenbefunden volle Beweiskraft zuzuschreiben ist.
Summary The author presents the results of his A1/A2 subgroup examinations made in 1460 court cases in 1500 assumed fathers. In 15 cases or in 16 men (i.e. 1.06% of the men) it was possible to exclude fatherhood by means of the subgroup determinations. The absolute number of fatherhood-exclusions thus may be increased by 0.466%. The author holds the view that the requirements should be kept a strict secret, in order to ensure full conclusiveness to the exclusion of fatherhood on the basis of subgroup findings.
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