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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1992-10-8
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pubmed:abstractText |
Hb Bab-Saadoun which has a Leu----Pro substitution at position 48 of the beta chain was detected in a young Arabian boy living in Tunisia. His parents did not have the variant which suggests that it occurred as a spontaneous mutation. The substitution is located in the interhelical CD segment; leucine at beta 48 is an invariable amino acid that may be important as part of a spacer sequence between the two helices and its replacement by proline may affect the stability of the hemoglobin molecule. Hb Bab-Saadoun is unstable in heat and isopropanol stability tests and its chain was best isolated by parachloromercuribenzoate precipitation. It appears unlikely that the presence of Hb Bab-Saadoun results in a hemolytic anemia.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
0363-0269
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
267-73
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:1517103-Adolescent,
pubmed-meshheading:1517103-Adult,
pubmed-meshheading:1517103-Child,
pubmed-meshheading:1517103-Ethnic Groups,
pubmed-meshheading:1517103-Female,
pubmed-meshheading:1517103-Globins,
pubmed-meshheading:1517103-Hemoglobins, Abnormal,
pubmed-meshheading:1517103-Heterozygote,
pubmed-meshheading:1517103-Humans,
pubmed-meshheading:1517103-Male,
pubmed-meshheading:1517103-Middle Aged,
pubmed-meshheading:1517103-Mutation,
pubmed-meshheading:1517103-Protein Denaturation,
pubmed-meshheading:1517103-Sickle Cell Trait,
pubmed-meshheading:1517103-Thalassemia,
pubmed-meshheading:1517103-Tunisia
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pubmed:year |
1992
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pubmed:articleTitle |
Hb Bab-Saadoun or alpha 2 beta (2)48(CD7)Leu----Pro, a mildly unstable variant found in an Arabian boy from Tunisia.
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pubmed:affiliation |
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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