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Volumn 96, Issue 5, 2015, Pages 709-719

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

(22)  Nakayama, Tojo a,b   Al Maawali, Almundher a,c   El Quessny, Malak a   Rajab, Anna d   Khalil, Samir e,f   Stoler, Joan M a,b   Tan, Wen Hann a,b   Nasir, Ramzi a,b   Schmitz Abe, Klaus a,b,g   Hill, R Sean a   Partlow, Jennifer N a   Al Saffar, Muna a,h   Servattalab, Sarah a   Lacoursiere, Christopher M a   Tambunan, Dimira E a   Coulter, Michael E a,i   Elhosary, Princess C a   Gorski, Grzegorz a   Barkovich, A James j   Markianos, Kyriacos a,b,g   more..


Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CRISPR ASSOCIATED PROTEIN; MESSENGER RNA; PROTEIN VARIANT; PYRROLINE 5 CARBOXYLATE REDUCTASE; PYRROLINE 5 CARBOXYLATE REDUCTASE 2; UNCLASSIFIED DRUG; AMINO ACID TRANSPORTER; ANTIPORTER; DELTA-1-PYRROLINE-5-CARBOXYLATE REDUCTASE;

EID: 84929270240     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.03.003     Document Type: Article
Times cited : (66)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.