Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis

Hum Mol Genet. 1995 Feb;4(2):309-12. doi: 10.1093/hmg/4.2.309.

Authors

C J Williams¹, M Rock, E Considine, S McCarron, P Gow, R Ladda, D McLain, V M Michels, W Murphy, D J Prockop, et al.

Affiliation

¹ Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

PMID: 7757086
DOI: 10.1093/hmg/4.2.309

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Achondroplasia / genetics
Amino Acid Sequence
Arginine / genetics
Base Composition
Base Sequence
Bone Diseases, Developmental / genetics
Cysteine / genetics
Deoxyribonucleases, Type II Site-Specific
Electrophoresis, Polyacrylamide Gel / methods*
Family Health
Female
Humans
Joint Diseases / genetics
Male
Molecular Sequence Data
Nucleic Acid Conformation
Pedigree
Point Mutation*
Polymerase Chain Reaction
Procollagen / genetics*
Restriction Mapping

Substances

Procollagen
Arginine
Deoxyribonucleases, Type II Site-Specific
Cysteine

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