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Ahmed A Abdulelah Selected Research

Type 2A2 Axonal Charcot-Marie-Tooth Disease

1/2022Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.

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Ahmed A Abdulelah Research Topics

Disease

1Type 2A2 Axonal Charcot-Marie-Tooth Disease
01/2022
1Alkaptonuria
09/2020
1Metabolic Diseases (Metabolic Disease)
09/2020

Drug/Important Bio-Agent (IBA)

1Pharmaceutical PreparationsIBA
01/2022
1Homogentisic AcidIBA
09/2020
1Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA
09/2020