Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations

Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations

A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C a...

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Veröffentlicht in:Internal Medicine 2003, Vol.42(3), pp.268-272
Hauptverfasser: HAYASHIDA, Mie, YAMADA, Hiroyoshi, YAMAZAKI, Satoshi, NOMURA, Hiroshi, YOSHIMURA, Kazuhiko, KiTAHARA, Osamu, MOMOSE, Kunio, KUBO, Keishi, KURIHARA, Masako, HAMASAKI, Naotaka
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Biological and medical sciences
Chromosome Segregation
combined deficiency
DNA Mutational Analysis
genetic analysis
Genotype
Hematologic and hematopoietic diseases
Humans
Male
Medical sciences
Platelet diseases and coagulopathies
Point Mutation
protein C
Protein C Deficiency - complications
Protein C Deficiency - genetics
protein S
Protein S Deficiency - complications
Protein S Deficiency - genetics
Recurrence
Thromboembolism - complications
Thromboembolism - genetics
venous thrombosis
Venous Thrombosis - complications
Venous Thrombosis - genetics
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Beschreibung
Zusammenfassung:A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C and protein S deficiency and only one report of such a family characterized at the DNA level. This was the first reported family in Japan with combined deficiency of protein C and protein S accompanied by segregation of gene lesions. (Internal Medicine 42: 268-272, 2003)
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.42.268