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One gene, many phenotypes
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Mutations in different genes can lead to similar phenotype e.g., hereditary spherocytosis can be due to mutations in the genes encoding for spectrin, ankyrin, protein 4.2 or band 3. [1],[2],[3],[4] In contrast, defects in a single gene have been implicated in different phenotypes. For example, cystic fibrosis is caused by homozygous/compound heterozygous mutations in the CFTR gene. Mutations in the same gene can lead to isolated congenital bilateral absence of vas deferens (CBAVD). [5],[6],[7...
Related newspaper, magazine, and journal articles from HighBeam Research
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Urban Perspective: Informing Blacks About Sickle Cell Disease
Los Angeles Sentinel
; Larry Aubry Los Angeles Sentinel 10-31-1996 URBAN PERSPECTIVE: Informing Blacks About Sickle Cell Disease. Sickle cell disease is, of course, most prevalent among blacks in the United States. About one in every five hundred inherits the disease. Despite this high incidence of occurrence, however,
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Helping children with sickle cell disease
NEA Today
; More than 70,000 Americans live with sickle cell disease-and not without difficulty. The anemia and pain associated with this blood disorder can be tough to bear, but it can really take a toll on small children and young adolescents trying to be "normal" in school. To get a handle on the disease
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Sickle Cell Disease Awareness To Be Highlighted By New U.S. Postage Stamp
New York Voice Inc./Harlem USA
; ... Sept. 29, 2003 you can see the Sickle Cell Disease stamp online by opening this press release at www.usps.com/ communications/news/stamps/welcome.htm. Current U.S. stamps, as well as a free comprehensive catalog, are available by toll-free phone order at 1 ...
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Guide for teachers of children with sickle cell disease
Westside Gazette
; If you have a child with sickle cell disease, we encourage parents to arrange a conference with their children's teacher. Here is a sample guide of helpful tips for school personnel. The following information was obtained from the book Hope and Destiny: The Patient and Parent's Guide to Sickle Cell
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Sickle Cell disease awareness to be highlighted by new U.S. postage stamp
New York Beacon, The
; ... created 15 U.S. postage stamps for the 1997 World Dinosaurs commemorative pane. Starting Sept. 29, 2003 you can see the Sickle Cell Disease stamp online at www.usps.com/communications/news/stamps/welcome.htm. Article copyright Smith Haj Group. V.10;
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Opportunities to improve outcomes in sickle cell disease.(Disease/Disorder overview)
American Family Physician
; Sickle cell disease represents a spectrum of inherited hemoglobin disorders. The pathophysiology involves abnormalities not just in red blood cells but also vascular endothelium, white blood cell function, coagulation, and inflammatory response. Known sequelae of sickle cell disease include
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Sickle cell disease: screening and management in newborns and infants. (Clinical Practice Guidelines: Quick Reference Guide for Clinicians)
American Family Physician
; Purpose and Scope Sickle cell disease comprises a group of genetic disorders characterized by the inheritance of sickle hemoglobin (Hb S) from both parents or Hb S from one parent and a gene for an abnormal hemoglobin or [beta]-thalassemia from the other parent. The presence of Hb S can cause red
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Laboratory Diagnosis, Pathophysiology and Health Maintenance.(Sickle Cell Disease in Childhood, part 1)
American Family Physician
; Over the past 25 years, morbidity and mortality have decreased significantly in children with sickle cell disease, and screening tests are now available to diagnose the disease in newborns. The incidence of sepsis caused by pneumococcal and Haemophilus influenzae infections has declined because of
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Sickle Cell Disease awareness to be highlighted by new U.S. Postage Stamp
Westside Gazette
; ... commemorative pane. Now you can see the Sickle Cell Disease stamp online by opening this press release at www.usps.com/communications/news/stamps/welcome.htm. Current U.S. stamps, as well as a free comprehensive catalog, are available by toll-free phone order at 1 ...
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Stamp Design Unveiled at Annual Sickle Cell Disease Association Convention
Los Angeles Sentinel
; ... Dinotopia books, created 15 U.S. postage stamps for the 1997 World of Dinosaurs commemorative pane. The Sickle Cell Disease stamp can be viewed online by going to www.usps.com/communications/news/stamps. Article copyright Los Angeles Sentinel. V.LXI
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