An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency

Journal of Applied Genetics

Volumn 51, Issue 4, 2010, Pages 523-528

  Vatanavicharn, N ^a   Visitsunthorn, N ^a   Pho Iam, T ^a   Jirapongsananuruk, O ^a   Pacharn, P ^a   Chokephaibulkit, K ^a   Limwongse, C ^a   Wasant, P ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

Cartilage hair hypoplasia; Combined immune deficiency; Promoter region mutation; RMRP gene

Indexed keywords

EID: 78649787242     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03208884     Document Type: Article

References (15)

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