TY  - GEN
AU  - Mabuchi,A
AU  - Haga,N
AU  - Ikeda,T
AU  - Manabe,N
AU  - Ohashi,H
AU  - Takatori,Y
AU  - Nakamura,K
AU  - Ikegawa,S
TI  - Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia
SN  - 0148-7299
PY  - 2002///0214
KW  - Achondroplasia
KW  - diagnostic imaging
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Cartilage Oligomeric Matrix Protein
KW  - Exons
KW  - Extracellular Matrix Proteins
KW  - chemistry
KW  - Genotype
KW  - Glycoproteins
KW  - Humans
KW  - Male
KW  - Matrilin Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Protein Structure, Tertiary
KW  - Radiography
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.10067
ER  -