Rimoin, D L
Molecular defects in the chondrodysplasias. [electronic resource]
- American journal of medical genetics May 1996
- 106-10 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
0148-7299
10.1002/(SICI)1096-8628(19960503)63:1<106::AID-AJMG20>3.0.CO;2-R doi
Adenosine Deaminase--deficiency
Arylsulfatases--genetics
Cartilage--growth & development
Chromosome Mapping
Cloning, Molecular
Collagen--genetics
Female
Humans
Lysosomes--enzymology
Male
Metabolism, Inborn Errors--genetics
Osteochondrodysplasias--genetics
Parathyroid Hormone-Related Protein
Peroxisomal Disorders--genetics
Protein-Tyrosine Kinases
Proteins--genetics
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor--genetics
Severe Combined Immunodeficiency--genetics