Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.-Reference-Cited by-同舟云学术

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.

Published:1986-02-01 Issue:1 Volume:23 Page:19-22
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Ogilvie D,Wordsworth P,Thompson E,Sykes B

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. A new estimate of the achondroplasia mutation rate;Gardner, R.J.M.;Clini Geniet,1977

2. Parental agc and mutation;Penrose, L.S.;Lantcet

3. Genetic.s, evolution atid inan;LL, Bodmer W.F.Cavalli-Sforza,1976

4. Endochondral ossificaition in achondroplastic dwarfism;Rimoin, D.L.; hlughcs GN; Kaufman, R.L.; Wil, Rosenthal R.E.McAllister; Silherherg, R.;N Engl J Med

5. Normal somatomedin and somatomedin receptor in achondroplastic dwarfism;Rosenfeld, R.G.; Hintz, R.L.;Horrn Metab Res

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1. Integrin β1, PDGFRβ, and type II collagen are essential for meniscus regeneration by synovial mesenchymal stem cells in rats;Scientific Reports;2022-08-19

2. Achondroplasia Associated with Bilateral Keratoconus;Case Reports in Ophthalmological Medicine;2012

3. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia;American Journal of Medical Genetics;1995-01-02

4. The gene for achondroplasia maps to the telomeric region of chromosome 4p;Nature Genetics;1994-03

5. A gene for achondroplasia–hypochondroplasia maps to chromosome 4p;Nature Genetics;1994-03