Description:
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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SPANISH/FRENCH
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Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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|
Remarks
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|
| Remarks |
Anhydramnios/oligohydramnios; enlarged kidneys; 46,XX; diagnosis was made by prenatal ultrasound at 33 weeks gestational age |
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