Výsledky vyhledávání - "M. G. Headlee"

HB Wayne, the Frameshift Variant with Extended α Chains Observed in a Caucasian Family from Alabama

Autor: J. B. Wilson, Brooke B. Webber, S. E. N. Johnson, Titus H.J. Huisman, H. Lam, M. G. Headlee

Publikováno v: Hemoglobin. 8:1-15

The presence of the alpha-globin frameshift mutant, Hb Wayne, in three generations of a second family is described. The data include a hematological evaluation of the four heterozygotes, structural characterization of the variant, the use of HPLC for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::340acb27f7303a210f8d926d24b3e4a2
https://doi.org/10.3109/03630268408996956

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Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G? and A? types of ? chain

Autor: Titus H.J. Huisman, P. K. Sukumaran, Abdullah Kutlar, M. G. Headlee, M. B. Gardiner, S. Nagle, M. P. Cleek, A. L. Reese

Publikováno v: Biochemical Genetics. 22:21-35

Restriction endonuclease analyses of DNA from one Black GγAγ-HPFH homozygote and four Black and one Indian GγAγ-HPFH heterozygotes have identified three different HPFH types which are the result of large deletions including the δ and β genes. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f54d685eedee12862072b0a8f0e08050
https://doi.org/10.1007/bf00499284

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Hb A2-Manzanares Or α2δ2121(Gh4) Glu→Val, An Unstable δ Chain Variant Observed in a Spanish Family

Autor: C. Romero Garcia, H. Lam, J. B. Wilson, Titus H.J. Huisman, M. G. Headlee, J. L. Navarro, Brooke B. Webber

Publikováno v: Hemoglobin. 7:435-442

A slowly moving variant of Hb A2 was present in a 25-year-old Spanish woman and her mother, and was found to have a Glu→Val substitution at position 121 of the δ chain. The variant was unstable and precipitated gradually during anion exchange chro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dbcfcecf1f307388f17c01f22911db95
https://doi.org/10.3109/03630268309038412

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Hb A2-Zagreb Or α2δ2125(H3)Gln→Lglu, A New δ Chain Variant in Association with δβ-Thalassemia

Autor: Titus H.J. Huisman, I. Crepinko, H. Lam, D. Juricic, Georgi D. Efremov, Brooke B. Webber, M. G. Headlee

Publikováno v: Hemoglobin. 7:443-448

The structural identification of a new δ chain variant is described. The abnormal Hb A2 was found in two members of a family from Zagreb, Yugoslavia. The propositus also had a αβ-thalassemia heterozygosity.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1748c5feb1310907fb39d7d54ef96bce
https://doi.org/10.3109/03630268309038413

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Hb Etobicoke, α85(F5) Ser → Arg Found in a Newborn of French-Indian-English Descent

Autor: Ruth N. Wrightstone, T. Nakatsuji, M. G. Headlee, Titus H.J. Huisman, H. Lam

Publikováno v: Hemoglobin. 7:285-287

During a recent testing program for hemoglobin (Hb) abnormalities in cord bloods of newborns in the State of Georgian an α-chain variant was discovered in a male Caucasian infant of French-Cherokee Indian-English descent. The hematological values of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c3265a8077cc6a852e33f2667f05127
https://doi.org/10.3109/03630268309048660

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Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G gamma and A gamma types of gamma chain

Autor: A, Kutlar, M B, Gardiner, M G, Headlee, A L, Reese, M P, Cleek, S, Nagle, P K, Sukumaran, T H, Huisman

Publikováno v: Biochemical genetics. 22(1-2)

Restriction endonuclease analyses of DNA from one Black G gamma A gamma-HPFH homozygote and four Black and one Indian G gamma A gamma-HPFH heterozygotes have identified three different HPFH types which are the result of large deletions including the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2f09e041bde84ba2619dfc25f98b4e3c
https://pubmed.ncbi.nlm.nih.gov/6201160

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Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia

Autor: D, Juricic, I, Crepinko, G D, Efremov, H, Lam, B B, Webber, M G, Headlee, T H, Huisman

Publikováno v: Hemoglobin. 7(5)

The structural identification of a new delta chain variant is described. The abnormal Hb A2 was found in two members of a family from Zagreb, Yugoslavia. The propositus also had a delta beta-thalassemia heterozygosity.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a1834f648da084f2b3af5f22221b2a88
https://pubmed.ncbi.nlm.nih.gov/6629826

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Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family

Autor: C, Romero Garcia, J L, Navarro, H, Lam, B B, Webber, M G, Headlee, J B, Wilson, T H, Huisman

Publikováno v: Hemoglobin. 7(5)

A slowly moving variant of Hb A2 was present in a 25-year-old Spanish woman and her mother, and was found to have a Glu replaced by Val substitution at position 121 of the delta chain. The variant was unstable and precipitated gradually during anion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ac98b1effdfd037026e6a43d15c72966
https://pubmed.ncbi.nlm.nih.gov/6629825

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