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Volumn 161, Issue 10, 2013, Pages 2519-2527

Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Author keywords

Ehlers Danlos syndrome; Growth disorder; Proteoglycans; Whole exome sequencing

Indexed keywords

BETA1 4 GALACTOSYLTRANSFERASE 7; MESSENGER RNA; MUTANT PROTEIN; UNCLASSIFIED DRUG;

EID: 84884974803     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36128     Document Type: Article
Times cited : (42)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.