Journal article
mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.
- Abstract:
-
Two kindreds residing in eastern Missouri and exhibiting X-linked recessive idiopathic hypoparathyroidism have been described. Genealogical records extending back five generations revealed no common ancestor. To investigate the possibility of relatedness, the DNA sequence of the mitochondrial D-loop was compared among several individuals in both kindreds. The mtDNA D-loop was amplified from the total DNA of individuals by use of nested PCR reactions, and the resulting 430-bp fragment was sequ...
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- Publication status:
- Published
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Bibliographic Details
- Journal:
- American journal of human genetics
- Volume:
- 60
- Issue:
- 1
- Pages:
- 153-159
- Publication date:
- 1997-01-01
- EISSN:
-
1537-6605
- ISSN:
-
0002-9297
- Source identifiers:
-
8076
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:8076
- UUID:
-
uuid:bb01b657-6fc5-4829-b6f8-32b2e81c8213
- Local pid:
- pubs:8076
- Deposit date:
- 2012-12-19
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- Copyright date:
- 1997
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