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

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 - Case report

Vatanavicharn, N. / Visitsunthorn, N. / Pho-iam, T. / Jirapongsananuruk, O. / Pacharn, P. / Chokephaibulkit, K. / Limwongse, C. / Wasant, P.

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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 - Case report

Vatanavicharn, N. / Visitsunthorn, N. / Pho-iam, T. / Jirapongsananuruk, O. / Pacharn, P. / Chokephaibulkit, K. / Limwongse, C. / Wasant, P.

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 - Case report

Vatanavicharn, N. / Visitsunthorn, N. / Pho-iam, T. / Jirapongsananuruk, O. / Pacharn, P. / Chokephaibulkit, K. / Limwongse, C. / Wasant, P.

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Titel:

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 - Case report

Beteiligte:

Vatanavicharn, N. (Autor:in) / Visitsunthorn, N. (Autor:in) / Pho-iam, T. (Autor:in) / Jirapongsananuruk, O. (Autor:in) / Pacharn, P. (Autor:in) / Chokephaibulkit, K. (Autor:in) / Limwongse, C. (Autor:in) / Wasant, P. (Autor:in)

Erschienen in:

JOURNAL OF APPLIED GENETICS ; 51 ; 523-528

Erscheinungsdatum:

01.01.2010

Format / Umfang:

6 pages

ISSN:

1234-1983

Medientyp:

Aufsatz (Zeitschrift)

Format:

Sprache:

Englisch

Klassifikation:

DDC: 576.5

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