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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:
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
Journal:
American journal of human genetics
Volume:
60
Issue:
1
Pages:
153-159
Publication date:
1997-01-05
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:bb01b657-6fc5-4829-b6f8-32b2e81c8213
Source identifiers:
8076
Local pid:
pubs:8076

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