Linked Life Data

7901183

Source:http://linkedlifedata.com/resource/pubmed/id/7901183

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1993-12-1
pubmed:abstractText
A large novel alpha-thalassemia-1 deletion which includes the zeta-, alpha 2-, alpha 1-, and theta 1-globin genes is described in a Black family living in Georgia and Florida. The deletion which was characterized by restriction enzyme analysis, extends 15 to 35 kb 5' and at least 35 kb 3' to the Cap site of the zeta-globin gene. Mental retardation was not observed. The deletion was present in a 35-year-old male with Hb H disease and his mother; the major hemoglobin type in the propositus was Hb G-Philadelphia or alpha (2)68(E12)Asn-->Lys beta 2 because his second chromosome carried the -alpha G(-3.7 kb) alpha-thalassemia-2 deletion.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0363-0269
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
345-53
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Black alpha-thalassemia-1: partial characterization of an approximately 80 kb deletion which includes the zeta- and alpha-globin genes.
pubmed:affiliation
Department of Biochemistry and Molecular Biology Medical College of Georgia, Augusta 30912-2100.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports