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Results for “DEFECTS, CONGENITAL”

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PubMed1977

A chromosome No. 2 abnormality in a child with a few congenital defects.

An abnormal chromosome No2 was found in the case of a child with an imperforate anus, a recto-vaginal fistula, unilateral atresia of the inner canal ,and deformity of the external ear. G-banding studies revealed an insertion of a segment of the short arm into the long arm in one of the chromosomes No. 2 of the proband, the apparent result of a de novo phenomenon of chromosome rearrangement.

Abnormalities, Multiple↗
PubMed1971

Identification of a congenital defect of factor VII in a colony of beagle dogs: the clinical use of the plasma.

A severe, pure deficiency of factor VII has been defined in haematological and biochemical terms in the Alderley Park colony of beagle dogs. By modification of the conventional factor VII assay to improve its specificity an apparent low activity of between 1 and 2.5% of the normal beagle has been found. When this plasma is used as a substrate for factor VII assays it compares well with human factor VII-deficient plasma in the measurement of both raised and depressed factor VII activity. It also appears to be a valuable reagent in the quality control of tissue thromboplastin extracts.

Animals↗