TY  - GEN
AU  - Loughlin,J
AU  - Irven,C
AU  - Mustafa,Z
AU  - Briggs,M D
AU  - Carr,A
AU  - Lynch,S A
AU  - Knowlton,R G
AU  - Cohn,D H
AU  - Sykes,B
TI  - Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia
SN  - 1059-7794
PY  - 1999///0630
KW  - Achondroplasia
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cartilage Oligomeric Matrix Protein
KW  - DNA
KW  - chemistry
KW  - DNA Mutational Analysis
KW  - DNA Primers
KW  - Extracellular Matrix Proteins
KW  - Family Health
KW  - Female
KW  - Glycoproteins
KW  - Humans
KW  - Male
KW  - Matrilin Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Pedigree
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/humu.1380110105
ER  -