New unstable haemoglobin (Hb Moscva, beta24 (B4) Gly leads to Asp) found in the USSR.
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Amino Acid Sequence↗
Biomedical subjects
R Casey
Publications and source records attributed to R Casey.
A new haemoglobin J from Turkey--Hb Ankara (beta10 (A7) Ala-Asp).
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Alanine↗
The oxygen affinity of haemoglobin St. Luke's.
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Amino Acid Sequence↗
Haemoglobin Madrid beta 115 (G17) alanine--proline: an unstable variant associated with haemolytic anaemia.
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Adolescent↗
Structure and function of haemoglobin Tacoma (beta 30 Arg yields Ser) found in a second family.
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Amino Acid Sequence↗
The role of cations and other factors on the apparent energy of activation of (Na + + K + )-ATPase.
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Adenosine Triphosphatases↗
Leigh's disease with clinical manifestations of Cornelia de Lange syndrome.
Leigh's disease was found postmortem in a 5-year-old girl who was diagnosed clinically as Cornelia de Lange syndrome at age 1 year. The child's neurological status began to deteriorate rapidly at age 4.5 years and she died suddenly 6 months later. Postmortem examination of the brain revealed bilateral necrosis of the hypothalamus, subthalamic nuclei, midbrain, pons, and medulla. Previous studies have linked Cornelia de Lange syndrome to hypothalamic lesions. This case demonstrates that Leigh's disease, which also damages the hypothalamus, could present with phenotypic features of Cornelia de Lange syndrome.
Brain↗
[Hemoglobin A2 in the black populations of West Africa. 1st results of a study at Senegal].
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Adolescent↗