Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations-Reference-Cited by-同舟云学术

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Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations

Published:2008-12 Issue:6 Volume:122 Page:1178-1184
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Kavadas Fotini D.,Giliani Silvia,Gu Yiping,Mazzolari Evelina,Bates Andrea,Pegoiani Eleonora,Roifman Chaim M.,Notarangelo Luigi D.

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference31 articles.

1. Cartilage-hair hypoplasia: clinical manifestations in 108 Finnish patients;Makitie;Eur J Pediatr,1993

2. Cartilage-hair hypoplasia;Mäkitie;J Med Genet,1995

3. Short limbed dwarfism with bowing, combined immunodeficiency, and the late onset aplastic anemia caused by novel mutations in the RMPR gene;Kuijpers;J Med Genet,2003

4. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum;Thiel;Am J Hum Genet,2007

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