|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
2005-3-16
|
|
pubmed:abstractText |
A T-->C mutation in the beta-globin gene at codon 110 that produces the hyper unstable variant Hb Showa-Yakushiji was identified in four unrelated individuals in India. It was found in a compound heterozygous state with other mutations producing beta-thalassemia (thal) or Hb E [beta26(B8)Glu-->Lys]. The mutation producing this abnormal hemoglobin (Hb) was found on the same haplotype in all these patients but differed from the Japanese haplotype, indicating its independent origin in India.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0363-0269
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
29
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
19-25
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:15768552-Adolescent,
pubmed-meshheading:15768552-Adult,
pubmed-meshheading:15768552-Aged,
pubmed-meshheading:15768552-Amino Acid Substitution,
pubmed-meshheading:15768552-Child,
pubmed-meshheading:15768552-Child, Preschool,
pubmed-meshheading:15768552-Codon,
pubmed-meshheading:15768552-Female,
pubmed-meshheading:15768552-Haplotypes,
pubmed-meshheading:15768552-Hemoglobin E,
pubmed-meshheading:15768552-Hemoglobins, Abnormal,
pubmed-meshheading:15768552-Humans,
pubmed-meshheading:15768552-India,
pubmed-meshheading:15768552-Male,
pubmed-meshheading:15768552-Middle Aged,
pubmed-meshheading:15768552-Point Mutation,
pubmed-meshheading:15768552-beta-Thalassemia
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
Hb Showa-Yakushiji [beta110(G12)Leu-->Pro] in four unrelated patients from west Bengal.
|
|
pubmed:affiliation |
Department of Haematology, Christian Medical College, Vellore, India.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
