Molecular defects in the chondrodysplasias

Journal Article · Fri May 03 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<106::AID-AJMG20>3.0.CO;2-R· OSTI ID:441187

Rimoin, D L ^[1]

---

1. UCLA School of Medicine, Los Angeles, CA (United States)

There has been a recent explosion of knowledge concerning the biochemical and molecular defects in the skeletal dysplasia. Through both the candidate gene approach and positional cloning, specific gene defects that produce the skeletal dysplasia have been identified and may be classified into several general categories: (1) qualitative or quantitative abnormalities in the structural proteins of cartilage; (2) inborn errors of cartilage metabolism; (3) defects in local regulators of cartilage growth; and (4) systemic defects influencing cartilage development. 35 refs., 1 tab.

• OSTI ID: 441187
• Journal Information: American Journal of Medical Genetics, Vol. 63, Issue 1; Other Information: PBD: 3 May 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
SKELETAL DISEASES
GENES
GENETIC MAPPING
DNA-CLONING
GENE MUTATIONS
CARTILAGE
GROWTH
METABOLISM
PROTEINS
COLLAGEN
FIBROBLASTS
GROWTH FACTORS
RECEPTORS