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Imtiaz et al., 2016 - Google Patents

Spectrum of mutations in 60 saudi patients with mut methylmalonic acidemia

Imtiaz et al., 2016

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Document ID
237865084094292157
Author
Imtiaz F
Al-Mubarak B
Al-Mostafa A
Al-Hamed M
Allam R
Al-Hassnan Z
Al-Owain M
Al-Zaidan H
Rahbeeni Z
Qari A
Faqeih E
Alasmari A
Al-Mutairi F
Alfadhel M
Eyaid W
Rashed M
Al-Sayed M
Publication year
Publication venue
JIMD Reports, Volume 29

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Snippet

Defects in the human gene encoding methylmalonyl-CoA mutase enzyme (MCM) give rise to a rare autosomal recessive inherited disorder of propionate metabolism termed mut methylmalonic acidemia (MMA). Patients with mut MMA have been divided into two …
Continue reading at www.ncbi.nlm.nih.gov (HTML) (other versions)

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