Галерея 2893548
Галерея 2893548
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Affiliation
1 Neurology Service, Massachusetts General Hospital, Boston 02114.
V Ramesh et al.
Am J Hum Genet .
1988 Feb .
Format
Abstract
PubMed
PMID
Affiliation
1 Neurology Service, Massachusetts General Hospital, Boston 02114.
O'Donnell JJ, Vannas-Sulonen K, Shows TB, Cox DR.
O'Donnell JJ, et al.
Am J Hum Genet. 1988 Dec;43(6):922-8.
Am J Hum Genet. 1988.
PMID: 3195589
Free PMC article.
Inana G, Hotta Y, Zintz C, Takki K, Weleber RG, Kennaway NG, Nakayasu K, Nakajima A, Shiono T.
Inana G, et al.
Invest Ophthalmol Vis Sci. 1988 Jul;29(7):1001-5.
Invest Ophthalmol Vis Sci. 1988.
PMID: 3417397
Hotta Y, Kennaway NG, Weleber RG, Inana G.
Hotta Y, et al.
Am J Hum Genet. 1989 Mar;44(3):353-7.
Am J Hum Genet. 1989.
PMID: 2916581
Free PMC article.
Ramesh V, Gusella JF, Shih VE.
Ramesh V, et al.
Mol Biol Med. 1991 Feb;8(1):81-93.
Mol Biol Med. 1991.
PMID: 1682785
Review.
Montioli R, Bellezza I, Desbats MA, Borri Voltattorni C, Salviati L, Cellini B.
Montioli R, et al.
Biochim Biophys Acta Proteins Proteom. 2021 Jan;1869(1):140555. doi: 10.1016/j.bbapap.2020.140555. Epub 2020 Oct 14.
Biochim Biophys Acta Proteins Proteom. 2021.
PMID: 33068755
Review.
Alparslan Ş, Fatih MT, Muhammed Ş, Adnan Y.
Alparslan Ş, et al.
Rom J Ophthalmol. 2018 Jul-Sep;62(3):246-249.
Rom J Ophthalmol. 2018.
PMID: 30505995
Free PMC article.
Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H.
Katagiri S, et al.
Doc Ophthalmol. 2014 Apr;128(2):137-48. doi: 10.1007/s10633-014-9426-1. Epub 2014 Jan 16.
Doc Ophthalmol. 2014.
PMID: 24429551
Renner AB, Walter A, Fiebig BS, Jägle H.
Renner AB, et al.
Doc Ophthalmol. 2012 Aug;125(1):81-9. doi: 10.1007/s10633-012-9335-0. Epub 2012 Jun 7.
Doc Ophthalmol. 2012.
PMID: 22674428
Black GC, Boulton ME, Bishop PN, McLeod D.
Black GC, et al.
Br J Ophthalmol. 1999 Nov;83(11):1215-8. doi: 10.1136/bjo.83.11.1215.
Br J Ophthalmol. 1999.
PMID: 10535843
Free PMC article.
No abstract available.
Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP.
Rosenfeld PJ, et al.
J Med Genet. 1994 Dec;31(12):903-15. doi: 10.1136/jmg.31.12.903.
J Med Genet. 1994.
PMID: 7891370
Free PMC article.
Review.
No abstract available.
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A cDNA probe (HOAT1) for ornithine aminotransferase (OAT) has recently been used to map (1) the structural gene for this enzyme to chromosome 10 and (2) several related DNA sequences to the X chromosome. We have defined six RFLPs for OAT, to explore its possible role in gyrate atrophy (GA) of the choroid and retina, an autosomal recessive genetic disorder associated with a deficiency of OAT activity. The RFLPs, which are detected by noncoding single-copy probes from the OAT gene and by subclones of the HOAT1 cDNA, all map on human chromosome 10, producing an overall level of heterozygosity for the OAT locus of 83%. Using the RFLPs, we have determined that the OAT locus segregates concordantly with GA in one available pedigree. Furthermore, the RFLPs display significant disequilibrium with GA, providing genetic evidence implicating a defect in the OAT structural gene as the cause of this disorder. The RFLPs for OAT are potentially applicable to prenatal diagnosis and carrier detection in families with a previous history of GA. They will also allow identification of specific haplotypes associated with GA chromosomes, as a guide for more detailed molecular-genetic investigations of the mutations underlying the disorder.
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использует защитную технологию, которая является устаревшей и уязвимой для атаки. Злоумышленник может легко выявить информацию, которая, как вы думали, находится в безопасности.
Clipboard, Search History, and several other advanced features are temporarily unavailable.
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Clipboard
Format
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1 selected item: 2893548 - PubMed
Format:
Summary
Summary (text)
Abstract
Abstract (text)
Create a new collection
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Name must be less than 100 characters
Unable to load your collection due to an error
Please try again
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Frequency:
Monthly
Weekly
Daily
Which day?
The first Sunday
The first Monday
The first Tuesday
The first Wednesday
The first Thursday
The first Friday
The first Saturday
The first day
The first weekday
Which day?
Sunday
Monday
Tuesday
Wednesday
Thursday
Friday
Saturday
Report format:
Summary
Summary (text)
Abstract
Abstract (text)
PubMed
Send at most:
1 item
5 items
10 items
20 items
50 items
100 items
200 items
Send even when there aren't any new results
Number of items displayed:
5
10
15
20
50
100
Create a new collection Add to an existing collection
Name must be less than 100 characters
Unable to load your collection due to an error Please try again
Page navigation
Title & authors
Abstract
Similar articles
Cited by
References
Publication types
MeSH terms
Substances
Related information
Grant support
LinkOut - more resources
Affiliation
1 Neurology Service, Massachusetts General Hospital, Boston 02114.
V Ramesh et al.
Am J Hum Genet .
1988 Feb .
Format
Abstract
PubMed
PMID
Affiliation
1 Neurology Service, Massachusetts General Hospital, Boston 02114.
O'Donnell JJ, Vannas-Sulonen K, Shows TB, Cox DR.
O'Donnell JJ, et al.
Am J Hum Genet. 1988 Dec;43(6):922-8.
Am J Hum Genet. 1988.
PMID: 3195589
Free PMC article.
Inana G, Hotta Y, Zintz C, Takki K, Weleber RG, Kennaway NG, Nakayasu K, Nakajima A, Shiono T.
Inana G, et al.
Invest Ophthalmol Vis Sci. 1988 Jul;29(7):1001-5.
Invest Ophthalmol Vis Sci. 1988.
PMID: 3417397
Hotta Y, Kennaway NG, Weleber RG, Inana G.
Hotta Y, et al.
Am J Hum Genet. 1989 Mar;44(3):353-7.
Am J Hum Genet. 1989.
PMID: 2916581
Free PMC article.
Ramesh V, Gusella JF, Shih VE.
Ramesh V, et al.
Mol Biol Med. 1991 Feb;8(1):81-93.
Mol Biol Med. 1991.
PMID: 1682785
Review.
Montioli R, Bellezza I, Desbats MA, Borri Voltattorni C, Salviati L, Cellini B.
Montioli R, et al.
Biochim Biophys Acta Proteins Proteom. 2021 Jan;1869(1):140555. doi: 10.1016/j.bbapap.2020.140555. Epub 2020 Oct 14.
Biochim Biophys Acta Proteins Proteom. 2021.
PMID: 33068755
Review.
Alparslan Ş, Fatih MT, Muhammed Ş, Adnan Y.
Alparslan Ş, et al.
Rom J Ophthalmol. 2018 Jul-Sep;62(3):246-249.
Rom J Ophthalmol. 2018.
PMID: 30505995
Free PMC article.
Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H.
Katagiri S, et al.
Doc Ophthalmol. 2014 Apr;128(2):137-48. doi: 10.1007/s10633-014-9426-1. Epub 2014 Jan 16.
Doc Ophthalmol. 2014.
PMID: 24429551
Renner AB, Walter A, Fiebig BS, Jägle H.
Renner AB, et al.
Doc Ophthalmol. 2012 Aug;125(1):81-9. doi: 10.1007/s10633-012-9335-0. Epub 2012 Jun 7.
Doc Ophthalmol. 2012.
PMID: 22674428
Black GC, Boulton ME, Bishop PN, McLeod D.
Black GC, et al.
Br J Ophthalmol. 1999 Nov;83(11):1215-8. doi: 10.1136/bjo.83.11.1215.
Br J Ophthalmol. 1999.
PMID: 10535843
Free PMC article.
No abstract available.
Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP.
Rosenfeld PJ, et al.
J Med Genet. 1994 Dec;31(12):903-15. doi: 10.1136/jmg.31.12.903.
J Med Genet. 1994.
PMID: 7891370
Free PMC article.
Review.
No abstract available.
Format:
AMA
APA
MLA
NLM
Send To
Clipboard
Email
Save
My Bibliography
Collections
Citation Manager
[x]
NLM
NIH
HHS
USA.gov
An official website of the United States government
The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure you’re on a federal
После отсоса у толпы негров брюнетка получила на лицо дождик из спермы
Негр выебал стройную шведскую блондинку
Сисястая телка присоединилась к более молодой паре