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Molecular characterization and subcellular localization of Tyr478del: a pathogenic in-frame deletion in coagulation factor V

✍ Scribed by C. D. JONES; C. YEUNG; F. NEGRO; J. L. ZEHNDER


Book ID
109151896
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
326 KB
Volume
5
Category
Article
ISSN
1538-7933

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We report on a 12-month-old Japanese boy with an interstitial deletion of the long-arm of chromosome 1 and meningomyelocele, hydrocephalus, anal atresia, atrial septal defect, left renal agenesis, bilateral cryptorchidism, talipes equinovarus, low birth weight, growth/developmental retardation, and