Berger et al., 2002 - Google Patents

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot–Marie–Tooth disease type 4B1

Berger et al., 2002

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Document ID
5242205030333087424
Author
Berger P
Bonneick S
Willi S
Wymann M
Suter U
Publication year
Publication venue
Human molecular genetics

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Mutations in the gene encoding myotubularin-related protein 2 (MTMR2) are responsible for autosomal recessive Charcot–Marie–Tooth disease type 4B1 (CMT4B1), a severe hereditary motor and sensory neuropathy characterized by focally folded myelin sheaths …
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    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
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