TY  - GEN
AU  - Rimoin,D L
TI  - Molecular defects in the chondrodysplasias
SN  - 0148-7299
PY  - 1996///0925
KW  - Adenosine Deaminase
KW  - deficiency
KW  - Arylsulfatases
KW  - genetics
KW  - Cartilage
KW  - growth & development
KW  - Chromosome Mapping
KW  - Cloning, Molecular
KW  - Collagen
KW  - Female
KW  - Humans
KW  - Lysosomes
KW  - enzymology
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - Osteochondrodysplasias
KW  - Parathyroid Hormone-Related Protein
KW  - Peroxisomal Disorders
KW  - Protein-Tyrosine Kinases
KW  - Proteins
KW  - Receptor, Fibroblast Growth Factor, Type 3
KW  - Receptors, Fibroblast Growth Factor
KW  - Severe Combined Immunodeficiency
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
UR  - https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<106::AID-AJMG20>3.0.CO;2-R
ER  -