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Volumn 104, Issue 1-2, 2011, Pages 189-191

Personalized genomic medicine: Lessons from the exome

Author keywords

CPSI; Pulmonary artery hypertension; VACTERL; Whole exome sequencing

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE; DOPAMINE; HYDROCORTISONE; MILRINONE; NITRIC OXIDE; SILDENAFIL;

EID: 80052521660     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.06.022     Document Type: Article
Times cited : (16)

References (17)
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    • Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing
    • Hoshide R., Matsuura T., Haraguchi Y., Endo F., Yoshinaga M., Matsuda I. Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing. J. Clin. Invest. 1993, 91:1884-1887.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.