experience a e National Niemann-Pick Disease Foundation PERSEVERE

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Date: 2012-01-11 14:43:10 Biology Neurodegenerative disorders Niemann–Pick disease Medicine Sphingomyelin phosphodiesterase 1 Lysosomal storage disease Epididymal secretory protein E1 NPC1 Genetic disorder Lipid storage disorders Rare diseases Health		experience a e National Niemann-Pick Disease Foundation PERSEVERE Add to Reading List Source URL: www.nnpdf.org Download Document from Source Website File Size: 755,41 KB Share Document on Facebook

	Exercise A variant has been identified in a patient presenting with a genetic disorder. We’d like to determine if it is causing the phenotype. The variant is in HGVS notation: 21:g.25606478T>C. (a) What are the prote DocID: 1uRRy - View Document
	UCSF Benioff Children’s Hospital Oakland Northern California Comprehensive THALASSEMIA Center What is Thalassemia? Thalassemia is a genetic blood disorder that causes hemoglobin deficiency and DocID: 1u2ik - View Document
	Dear Primary Care Provider, Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by weakness of the skeletal and respiratory muscles. SMA is a rare disorder occurring approximately 1 in 10,000 b DocID: 1tkD5 - View Document
	Idic(15) rarechromo.org Idic(15) Idic(15) is a rare chromosome disorder where people have extra genetic material (DNA) DocID: 1tabd - View Document
	PGD Preimplantation Genetic Diagnosis for Single Gene Disorders DocID: 1rhSI - View Document