Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia-Reference-Cited by-同舟云学术

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Published:2001-01 Issue:2 Volume:104 Page:195-203
ISSN:0092-8674
Container-title:Cell
language:en
Short-container-title:Cell

Author:

Ridanpää Maaret,van Eenennaam Hans,Pelin Katarina,Chadwick Robert,Johnson Cheryl,Yuan Bo,vanVenrooij Walther,Pruijn Ger,Salmela Riika,Rockas Susanna,Mäkitie Outi,Kaitila Ilkka,de la Chapelle Albert

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology

Reference43 articles.

1. Characterization of the human talin (TLN) gene;Ben-Yosef;Genomics,1999

2. Mutagenesis of SNM1, which encodes a protein component of the yeast Rnase MRP, reveals a role for this ribonucleoprotein endoribonuclease in plasmid segregation;Cai;Mol. Cell. Biol.,1999

3. A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA;Chang;Science,1987

4. A novel endoribonuclease cleaves at a priming site of mouse nitochondrial DNA replication;Chang;EMBO J.,1987

5. Mouse RNAase MRP RNA is encoded by a nuclear gene and contains a decamer sequence complementary to a conserved region of mitochondrial RNA substrate;Chang;Cell,1989

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