TY  - JOUR 
AU  - Barraza-García, J
AU  - Rivera-Pedroza, C I
AU  - Hisado-Oliva, A
AU  - Belinchón-Martínez, A
AU  - Sentchordi-Montané, L
AU  - Duncan, E L
AU  - Clark, G R
AU  - Del Pozo, A
AU  - Ibáñez-Garikano, K
AU  - Offiah, A
AU  - Prieto Matos, Pablo
AU  - Cormier-Daire, V
AU  - Heath, K E
PY  - 2017
SN  - 0009-9163
UR  - http://hdl.handle.net/10366/155661
AB  - Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease-mitochondrial RNA processing (RNase-MRP) and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the...
LA  - eng
KW  - Anauxetic dysplasia
KW  - Bone
KW  - POP1
KW  - RMRP
KW  - Skeletal dysplasia
KW  - Genetic Predisposition to Disease
KW  - Dwarfism
KW  - Phenotype
KW  - RNA
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Humans
KW  - Ribonucleoproteins
KW  - Apoptosis Regulatory Proteins
KW  - Homozygote
KW  - Musculoskeletal Abnormalities
TI  - Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia
DO  - 10.1111/cge.12964
VL  - 92
M2  - 91
ER  -