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Codon 104(-G), a dominant β0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors

Autor: Georgia Lahr, Joaquin Brintrup, Stefan Over, Gerhard E. Feurle, Klaus-Michel Debatin, Elisabeth Kohne

Publikováno v: Haematologica, Vol 92, Iss 9 (2007)

Codon 104(−G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited β0-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient. A co-inherited α gene triplication, long-te

Externí odkaz: https://doaj.org/article/73d9485f3232416e8ba1e9d2bfb92306

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Codon 104(-G), a dominant 0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors

Autor: Gerhard E. Feurle, Klaus-Michel Debatin, Joaquin Brintrup, Georgia Lahr, Elisabeth Kohne, Stefan Over

Publikováno v: Haematologica. 92:1264-1265

Codon 104(-G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited beta0-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient. A co-inherited a gene triplication, long-ter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18741d125785f651788be7804c7680e8
https://doi.org/10.3324/haematol.11383

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