mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.

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...

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Chi tiết về thư mục
Những tác giả chính:	Mumm, S, Whyte, M, Thakker, R, Buetow, K, Schlessinger, D
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	1997

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Bằng: Dixon, P, et al.
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Bằng: Trump, D, et al.
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Bằng: Matthews, P, et al.
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Bằng: Keeney Paula M, et al.
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Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness
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Bằng: Anton K Raap, et al.
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Bằng: Arslan A. Zaidi, et al.
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Bằng: Thakker, R, et al.
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Bằng: Bennett James P, et al.
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A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.
Bằng: Parkinson, D, et al.
Được phát hành: (1992)

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Bằng: Thakker, R, et al.
Được phát hành: (1991)

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A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.
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A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
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Bằng: J. Radvany, et al.
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MtDNA deletions and aging
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Melanesian mtDNA complexity.
Bằng: Jonathan S Friedlaender, et al.
Được phát hành: (2007-01-01)

Genetic developments in hypoparathyroidism.
Bằng: Thakker, R
Được phát hành: (2001)

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Bằng: Thakker, R
Được phát hành: (2003)

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Bằng: Marchington, D, et al.
Được phát hành: (2010)

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Evidence for a fourteenth mtDNA-encoded protein in the female-transmitted mtDNA of marine Mussels (Bivalvia: Mytilidae).
Bằng: Sophie Breton, et al.
Được phát hành: (2011-01-01)

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity.
Bằng: Alberto Cruz-Bermúdez, et al.
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Bằng: Gertner, J, et al.
Được phát hành: (1995)

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Bằng: David C Samuels, et al.
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A proteomic approach to mtDNA depletion
Bằng: Adams, S, et al.
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