|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0003765,
umls-concept:C0039730,
umls-concept:C0205250,
umls-concept:C0205419,
umls-concept:C0337112,
umls-concept:C0443343,
umls-concept:C0678227,
umls-concept:C1524075,
umls-concept:C1568825,
umls-concept:C1879648,
umls-concept:C2003941
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
2005-1-20
|
|
pubmed:abstractText |
A new alpha-globin mutation causing persistent mild hypochromic microcytosis and erythrocytosis is described. Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)] is not detected at the protein level and leads to alpha(+)-thalassemia (thal).
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0363-0269
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
28
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
347-51
|
|
pubmed:meshHeading |
pubmed-meshheading:15658192-Adult,
pubmed-meshheading:15658192-Amino Acid Substitution,
pubmed-meshheading:15658192-Globins,
pubmed-meshheading:15658192-Hemoglobins, Abnormal,
pubmed-meshheading:15658192-Humans,
pubmed-meshheading:15658192-Male,
pubmed-meshheading:15658192-Point Mutation,
pubmed-meshheading:15658192-Polycythemia,
pubmed-meshheading:15658192-Protein Denaturation,
pubmed-meshheading:15658192-alpha-Thalassemia
|
|
pubmed:year |
2004
|
|
pubmed:articleTitle |
A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)].
|
|
pubmed:affiliation |
Institute for Medical and Molecular Diagnostics Ltd, Zürich, Switzerland.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
