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| 1. |
Theβ- andδ-Thalassemia Repository |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 237-258
HuismanT. H. J.,
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ISSN:0363-0269
DOI:10.3109/03630269208998865
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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| 2. |
A new Variant, Hb Muscat [α2β232(B14)Leu→val] Observed in Association With Hb S in an Arabian Family |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 259-266
RamachandranM.,
H.L,
WilsonJ. B.,
KitunduM. N.,
AdekileA. D.,
C.J,
McKieK. M.,
HuismanT. H. J.,
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PDF (318KB)
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摘要:
The silent Hb Muscat with a Leu→Val replacement at positionβ32 was discovered by reversed phase high performance liquid chromatography in two members of an Arabian family from Oman; in one person Hb Muscat occurred with Hb S and in the other with Hb A. Hb Muscat is slightly unstable but its presence has no apparent adverse effect on the health of its carriers. Additional hemoglobin abnormalities observed in this family were a common a-thal-assemia-2 (-3.7 kb) and Hb S. TheβS haplotypes in the heterozygous carriers and the two sickle cell anemia patients were #19 (Benin) and #20 (Bantu); the latter likely originated from an East African population.
ISSN:0363-0269
DOI:10.3109/03630269208998866
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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| 3. |
Hb Bab-Saaooun orα2β248(CD7)Leu→pro, A Mildly Unstable Variant Found in an Arabian Boy from Tunisia |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 267-273
MolchanovaT. P.,
WilsonJ. B.,
H.L,
GuemiraF.,
FattoumS.,
HuismanT. H. J.,
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PDF (259KB)
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摘要:
Hb Bab-Saadoun which has a Leu→Pro substitution at position 48 of theβchain was detected in a young Arabian boy living in Tunisia. His parents did not have the variant which suggests that it occurred as a spontaneous mutation. The substitution is located in the interhelical CD segment; leucine atβ48 is an invariable amino acid that may be important as part of a spacer sequence between the two helices and its replacement by proline may affect the stability of the hemoglobin molecule. Hb Bab-Saadoun is unstable in heat and isopropanol stability tests and its chain was best isolated by parachloromercuribenzoate precipitation. It appears unlikely that the presence of Hb Bab-Saadoun results in a hemolytic anemia.
ISSN:0363-0269
DOI:10.3109/03630269208998867
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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| 4. |
Hb Pratoα31(B12)Arg→ser] in a Calabrian Family |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 275-279
De MarcoE. V.,
CrescibeneL.,
PasquaA.,
BrancatiC.,
BriaM.,
QualtieriA.,
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PDF (248KB)
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ISSN:0363-0269
DOI:10.3109/03630269208998868
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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| 5. |
Erythrocytosis Secondary to Hb Bunbury [α2β294(FG1)Asp→asn] |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 281-286
BallasS. K.,
ParkD.,
FernandezL.,
HineT. K.,
JueD. L.,
JohnsonM. H.,
MooW. F.,
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PDF (489KB)
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ISSN:0363-0269
DOI:10.3109/03630269208998869
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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| 6. |
Anomalous Results from a new Hematology Analyzer Reveal Hemoglobinopathies |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 287-290
LaharragueP. F.,
CorberandJ. X.,
FillolaG.,
CambusJ. P.,
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PDF (173KB)
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ISSN:0363-0269
DOI:10.3109/03630269208998870
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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| 7. |
A Mutation at CDS 82/83 (-G) Observed in a Yugoslavian Family with a Heterozygosity forβ-Thalassemia |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 291-294
JankovicL.,
DimovskiA. J.,
EfremovG. D.,
JuricicD.,
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PDF (293KB)
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ISSN:0363-0269
DOI:10.3109/03630269208998871
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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| 8. |
Twoβ-Thalassemia Mutations in Japan: Codon 121 (Gaa→Taa) and IVS-I-130 (G→C) |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 295-302
YamamotoKu.,
YamamotoKi.,
HattoriY.,
YamashiroY.,
HoshitaniM.,
MorishitaM.,
OhbaY.,
KatahiraH.,
KarasawaM.,
OmineM.,
NarukiyoT.,
HirabayashiK.,
MiyawakiS.,
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PDF (766KB)
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ISSN:0363-0269
DOI:10.3109/03630269208998872
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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| 9. |
Japaneseβ-Thalassemia [Codon 90 (GAG→TAG)] Has at Least two Origins |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 303-308
HattoriY.,
YamashiroY.,
OhbaY.,
MiyajiT.,
TeraiS.,
MorishitaM.,
YamamotoKu.,
YamamotoKi.,
MatsumotoN.,
KawanoF.,
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PDF (255KB)
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ISSN:0363-0269
DOI:10.3109/03630269208998873
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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| 10. |
A Novel Frameshift Mutation: Deletion of C in Codons 74/75 of theβ-Globin Gene Causesβ°-Thalassemia in a Turkish Patient |
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Hemoglobin,
Volume 16,
Issue 4,
1992,
Page 309-312
BaşakA. N.,
ÖzerA.,
ÖzçelikH.,
KirdarB.,
GürgeyA.,
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PDF (498KB)
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ISSN:0363-0269
DOI:10.3109/03630269208998874
出版商:Taylor&Francis
年代:1992
数据来源: Taylor
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