Description:
PROTHROMBIN DEFICIENCY, CONGENITAL
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
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HISPANIC
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
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|
Species
|
Homo sapiens
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|
Common Name
|
Human
|
|
Remarks
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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Hispanic; bloody diarrhea; prolonged protime & PTT; 8% of Factor II coagulant & 12% of Factor II antigen; parents are asymptomatic; parents & relatives show no evidence of Factor II deficiency; maternal aunt had a spontaneous CNS bleed |
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