Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Jordyn A. Moore"'
Publikováno v:
Clinical Biochemistry. 107:62-66
To describe a novel β-globin variant that interferes with HbA1c analysis by cation exchange HPLC.Diabetes screening by HbA1c measurement was assessed using cation exchange HPLC and an immunoassay point-of-care analyzer. Routine hemoglobinopathy scre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0398501dd73d4d7b7a31f97c2bf6cd3d
https://doi.org/10.1016/j.clinbiochem.2022.05.003
https://doi.org/10.1016/j.clinbiochem.2022.05.003
Publikováno v:
Hemoglobin. 46:81-86
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f6388d1e08c5fdc53106e99cbb63bf7
https://doi.org/10.1080/03630269.2022.2083971
https://doi.org/10.1080/03630269.2022.2083971
Publikováno v:
Hemoglobin. 46(2)
We report the identification of a novel hemoglobin (Hb) variant [α57(E6)Gly→Cys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d63d49c80bcb37f0945c582556c91f32
https://pubmed.ncbi.nlm.nih.gov/35957560
https://pubmed.ncbi.nlm.nih.gov/35957560
Publikováno v:
Hemoglobin. 45:203-206
Hb Tacoma [β30(B12)Arg→Ser] is a missense variant that is caused by either an AGG>AGT or AGG>AGC substitution at codon 30 of the HBB gene. Currently, the latter is classified as a rare cause of β0-thalassemia (β0-thal). We propose that HBB: c.93
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a972bb8640c6406cb4c43adba76a8c87
https://doi.org/10.1080/03630269.2021.1950010
https://doi.org/10.1080/03630269.2021.1950010
Publikováno v:
Hemoglobin. 45:41-45
We report the identification of a novel, high oxygen affinity hemoglobin (Hb) variant [α127(H10)Lys→Gln; HBA1: c.382A>C]. The variant was detected in an adolescent male (proband) of Syrian descent ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47076bc36413b6c625464498f8f567d0
https://doi.org/10.1080/03630269.2021.1873801
https://doi.org/10.1080/03630269.2021.1873801
Publikováno v:
Hemoglobin. 44:297-301
We report the identification of a large deletion of the α-globin gene cluster, which removed both HBA2 and HBA1 and included the region from HBZ to HBQ1 on chromosome 16 (16p13.3). The α0-thalassemia (α0-thal) deletion was discovered in an Indian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b77e5b5d762b912a2aab6a176c19c0e
https://doi.org/10.1080/03630269.2020.1797774
https://doi.org/10.1080/03630269.2020.1797774
Publikováno v:
Hemoglobin. 45(3)
Hb Tacoma [β30(B12)Arg→Ser] is a missense variant that is caused by either an AG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6da035e44b0c13f63902ad1c0a21ce3b
https://pubmed.ncbi.nlm.nih.gov/34233561
https://pubmed.ncbi.nlm.nih.gov/34233561
Publikováno v:
Hemoglobin. 45(1)
We report the identification of a novel, high oxygen affinity hemoglobin (Hb) variant [α127(H10)Lys→Gln
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ea7cdc2c9fe3ba7b827e04a52c842fa
https://pubmed.ncbi.nlm.nih.gov/33478272
https://pubmed.ncbi.nlm.nih.gov/33478272
Publikováno v:
Hemoglobin. 44(4)
We report the identification of a large deletion of the α-globin gene cluster, which removed both
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::12d3fd1301e007a6877d61d5883a3319
https://pubmed.ncbi.nlm.nih.gov/32722952
https://pubmed.ncbi.nlm.nih.gov/32722952
Autor:
Jordyn A. Moore, Beverley M. Pullon
Publikováno v:
Hemoglobin. 44(4)
Hb Manitoba [α102(G9)Ser→Arg] results from an AGC>CGC or AGC>AGA substitution at codon 102 of the HBA1 or HBA2 genes. The variant is mildly unstable but carriers typically have normal clinical pres...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::670158d69b24c88f4b52672b7caf8431
https://pubmed.ncbi.nlm.nih.gov/32619111
https://pubmed.ncbi.nlm.nih.gov/32619111