Paper Search Console

Home Search Page About Contact

Journal Title

Title of Journal:

Search In Journal Title:

Abbravation: Journal of Human Genetics

Search In Journal Abbravation:

Publisher

Nature Publishing Group

Search In Publisher:

DOI

10.1002/chin.199948045

Search In DOI:

ISSN

1435-232X

Search In ISSN:
Search In Title Of Papers:

High prevalence of Southeast Asian ovalocytosis in

Authors: Narazah Mohd Yusoff Hans Van Rostenberghe Taku Shirakawa Kaoru Nishiyama Noryati Amin Zainal Darus Nik Zainal Nizam Isa Hiroyuki Nozu Masafumi Matsuo
Publish Date: 2003/12
Volume: 48, Issue: 12, Pages: 650-
PDF Link

Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptSoutheast Asian ovalocytosis SAO is a red blood cell abnormality common in malariaendemic regions and caused by a 27 nt deletion of the band 3 protein gene Since band 3 protein also known as anion exchanger 1 is expressed in renal distal tubules the incidence of SAO was examined in distal renal tubular acidosis dRTA in Malays in Kelantan Malaysia Twentytwo patients with dRTA and 50 healthy volunteers were examined for complication of SAO by both morphological and genetic analyses SAO was identified in 18 of the 22 dRTA patients 818 but only two of the 50 controls 4 The incidence of SAO was significantly high in those with dRTA p0001 indicating a dysfunctional role for band 3 protein/anion exchanger 1 in the development of dRTA

Keywords:

References

.
Search In Abstract Of Papers:
Other Papers In This Journal:
  1. Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome
  2. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
  3. Distal 15q trisomy with Dandy-Walker malformation in a female infant
  4. Molecular cloning, mapping, and characterization of a novel human gene, MTA1-L1 , showing homology to a metastasis-associated gene, MTA1
  5. G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population
  6. Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of the N -acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease
  7. Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence
  8. Isolation of human chromosome 21-specific cosmids and their uses in mapping of cosmid contigs on chromosomal subregions
  9. Novel polymorphism in the 5′-untranslated region of the interleukin-4 gene
  10. A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene
  11. Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non- APOE -ε4 carriers
  12. A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan
  13. The hOGG1 Ser 326 Cys gene polymorphism is associated with decreased insulin sensitivity in subjects with normal glucose tolerance
  14. Concordance and discordance of anencephaly in 109 twin pairs in Japan
  15. Molecular cloning of a novel human gene ( SIRP-B2 ) which encodes a new member of the SIRP/SHPS-1 protein family
  16. Genomic imprinting and its relevance to genetic diseases
  17. No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population
  18. Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan
  19. Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement
  20. Cancer-predisposing genes and chromosome mutation
  21. A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: An autosomal recessive chromosome instability syndrome?
  22. Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples
  23. Analysis of the HLA-DRw9 antigen using two-dimensional gel electrophoresis and alloantisera
  24. High heritability of bone size at the hip and spine in Chinese
  25. Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes
  26. Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer
  27. In situ detection of insulin-like growth factor II ( IGF2 ) and H19 gene expression in hepatocellular carcinoma
  28. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia
  29. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex
  30. Common coding variant in the TCF7L2 gene and study of the association with type 2 diabetes in Japanese subjects
  31. Saliva acid phosphatases and amylase in Senoi and Aboriginal Malays and superoxide dismutase in various racial groups of peninsular Malaysia
  32. Linkage study of dominantly inherited olivo-ponto-cerebellar atrophy (OPCA) and Holmes' ataxia
  33. A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels
  34. Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males
  35. Genetic polymorphism of the a subunit of human coagulation factor XIII in Japanese
  36. Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations
Search Result: