Mutación del Gen FQ

También conocido como: Genotipado de la fibrosis quística (FQ), Análisis del ADN en FQ, panel de mutaciones en el gen de la FQ, Pruebas de genética molecular
Nombre sistemático: Panel de mutaciones en el gen de la fibrosis quística
Pruebas relacionadas: Prueba del sudor, Tripsinógeno, Tripsina y Quimotripsina

Cystic Fibrosis Foundation
Boomer Esiason Foundation

Howard Hughes Medical Institute: Discovering the Gene for Cystic Fibrosis
The National Institute of Diabetes and Digestive and Kidney Diseases: Cystic Fibrosis Research Directions


Bibliografía

Este artículo esta basado en las fuentes bibliográficas que se citan a continuación, así como en la propia experiencia del Comité de expertos y revisores de Lab Tests Online. Además, este apartado es revisado periódicamente por el Consejo Editorial, con el fin de mantenerlo actualizado.

Los enlaces dirigidos a páginas web pueden no estar disponibles por causas ajenas a nuestra voluntad, por lo que pedimos disculpas y agradeceremos que nos informe de estas anomalías para poder subsanarlas.

S1
National Newborn Screening and Genetics Resources Center, National Newborn Screening Status Report. http://genes-r-us.uthscsa.edu/nbsdisorders.htm

S2
American College of Obstetricians and Gynecology (ACOG), Cystic fibrosis Carrier Testing: The Decision is Yours. http://www.acog.org/

S3
American Medical Association, Cystic fibrosis testing (including recommendations by ACMG and ACOG. http://www.ama-assn.org/

S4
Human Genome Project Information, Genetic Disease Profile: Cystic Fibrosis  http://www.ornl.gov/

S5
MedlinePlus Medical Encycllopedia, Cystic Fibrosis. http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html

S6
National Heart, Lung, Blood Institute, Cystic Fibrosis, How Is Cystic Fibrosis Diagnosed? http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_diagnosis.html

S7
Denise I. Quigley, PhD, FACMG, Co-Director Cytogenetics/Molecular Genetics, Airport Way Regional Laboratory, Portland, OR

S8
Peter Jacky, PhD, FACMG. Director of Cytogenetics and Molecular Genetics, Airport Way Regional Laboratory, Portland, OR

S9
Thomas, Clayton L., Editor (1997). Taber’s Cyclopedic Medical Dictionary. F.A. Davis Company, Philadelphia, PA [18th Edition].

S10
Pagana, Kathleen D. & Pagana, Timothy J. (2001). Mosby’s Diagnostic and Laboratory Test Reference 5th Edition: Mosby, Inc., Saint Louis, MO.

S11
NIDDK. Cystic Fibrosis Research Directions. The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [NIH Publication No. 97-4200].  http://www.niddk.nih.gov/

S12
CFF. Sweat Testing Procedure and Commonly Asked Questions. Cystic Fibrosis Foundation  http://www.cff.org/publications01.htm

S13
Tait, J., et. al. Cystic Fibrosis. GENEReviews http://www.genetests.org/

S14
Mayo Clinic. What is Cystic Fibrosis? Mayo Clinic http://www.mayoclinic.com/invoke.cfm?objectid=2CEBF76F-D36A-4D15-B937BFF91AB51438

S15
MEDLINEplus. Cystic Fibrosis. MEDLINEplus Health Information http://www.nlm.nih.gov/medlineplus/ency/article/000107.htm

S16
MEDLINEplus. Sweat Electrolytes. MEDLINEplus Health Information http://www.nlm.nih.gov/medlineplus/ency/article/003630.htm

S17
MEDLINEplus. Trypsin and chymotrypsin in stool. MEDLINEplus Health Information http://www.nlm.nih.gov/medlineplus/ency/article/003594.htm

S18
Mountain States Genetics. Cystic Fibrosis (CF). Newborn Screening Practitioner’s Manual http://www.mostgene.org/

S19
National Institutes of Health. Facts About Cystic Fibrosis. National Heart, Lung, and Blood Institute NIH Publication No. 95-3650. http://www.nhlbi.nih.gov/health/public/lung/other

S20
Quest Diagnostics NEWS. What is the Best Test to Screen for Cystic Fibrosis? http://www.questdiagnostics.com/hcp/files/02winter_newsletter.pdf

S21
MEDLINEplus. Neonatal cystic fibrosis screening. MEDLINEplus Health Information. http://www.nlm.nih.gov/medlineplus/ency/article/003409.htm

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Drkoop. Cystic fibrosis. Medical Encyclopedia. http://www.drkoop.com/conditions/ency/article/000107.htm

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MEDLINEplus. Trypsinogen. MEDLINEplus Health Information. http://www.nlm.nih.gov/medlineplus/ency/article/003560.htm

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Biomedical Hypertext. Exocrine Secretions of the Pancreas. Colorado State University. http://arbl.cvmbs.colostate.edu/hbooks/pathphys/digestion/pancreas/exocrine.html

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UPCMD. Cystic Fibrosis. University Pathology Consortium, LLC. http://www.upcmd.com/dot/examples/00218/description.html

S26
Sainato, D., (2002, March). Genetic Testing for CF Going Mainstream? Clinical Laboratory News [Journal], vol 28

S27
Peter Jacky, PhD, FACMG. Director of Cytogenetics and Molecular Genetics, Airport Way Regional Laboratory, Portland, OR


Este artículo fue modificado por última vez 13.06.2011