Title
Estudio del pseudohipoparatiroidismo en una cohorte espaola: Caracterizacin clnico gentica: estudio del locus GNAS (Spanis,Used
Delivery time: 8-12 business days (International)
El pseudohipoparatiroidismo (PHP) est caracterizado por hipocalcemia e hiperfosfatemia debidas a resistencia a la hormona paratiroidea (PTH). Pacientes con PHPIa generalmente presentan otras resistencias hormonales y muestran un fenotipo caracterstico denominado osteodistrofia hereditaria de Albright (AHO). Este fenotipo tambin est presente en pacientes diagnosticados de pseudopseudohipoparatiroidismo (PPHP), que no tienen resistencia hormonal. Por otra parte, pacientes con PHPIb, presentan, preferentemente, resistencia a la PTH y no tienen fenotipo de Albright. Desde el punto de vista gentico, el PHPI est causado por alteraciones en el locus GNAS (20q13.32), uno de los ms complejos del genoma humano. Pacientes con PHPIa presentan mutaciones en heterozigosis en cualquiera de los trece exones del gen GNAS, que codifica la protena Gsa. Mientras que el PHPIb se debe a alteraciones en el complejo patrn de metilacin del locus GNAS, asociadas en algunos casos a deleciones, en el alelo materno, en regiones centromricas al gen GNAS.
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⚠️ WARNING (California Proposition 65):
This product may contain chemicals known to the State of California to cause cancer, birth defects, or other reproductive harm.
For more information, please visit www.P65Warnings.ca.gov.
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We ship your order within 2–3 business days for USA deliveries and 5–8 business days for international shipments. Once your package has been dispatched from our warehouse, you'll receive an email confirmation with a tracking number, allowing you to track the status of your delivery.
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We provide a 2-year limited warranty, from the date of purchase for all our products.
If you believe you have received a defective product, or are experiencing any problems with your product, please contact us.
This warranty strictly does not cover damages that arose from negligence, misuse, wear and tear, or not in accordance with product instructions (dropping the product, etc.).
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