scholarly article | Q13442814 |
P356 | DOI | 10.1002/AJMG.A.36059 |
P698 | PubMed publication ID | 23918762 |
P50 | author | Ann Saada | Q41879584 |
Irena Manov | Q79442599 | ||
P2093 | author name string | Eli Sprecher | |
Ofer Sarig | |||
Hanna Mandel | |||
Dorit Goldsher | |||
Theodore C Iancu | |||
Dana Fuchs-Telem | |||
Janna Nousbeck | |||
Ksenya Cohen-Katsenelson | |||
P433 | issue | 9 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | deafness | Q12133 |
3-methylglutaconic aciduria | Q3598794 | ||
P304 | page(s) | 2204-2215 | |
P577 | publication date | 2013-08-05 | |
P1433 | published in | American Journal of Medical Genetics | Q4744254 |
P1476 | title | Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1 | |
P478 | volume | 161A |
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