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Spinal Muscular Atrophy, Distal, X-Linked 3

Known as: DSMAX, SMAX3, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE 
National Institutes of Health

Papers overview

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2019
2019
2015
2015
ATP7A is a copper‐transporting P‐type ATPase that is essential for cellular copper homeostasis. Loss‐of‐function mutations in the… 
2012
2012
The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality… 
2009
2009
Objective: To clinically characterize and map the gene locus in a three-generation family with an X-linked adult-onset distal… 
Review
2009
Review
2009
Classification of neuropathies into Charcot-Marie-Tooth syndrome (CMT, hereditary motor and sensory neuropathy) or purely motor… 
2008
2008
PURPOSE To identify the mutation leading to syndromic choroideremia (CHM) in two families and to define fundus autofluorescence… 
2006
2006
Creating proper 3D models plays an important pole in the development of scene simulation system based on multigen creator and…