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Items: 11

1.

Parental age and mutation.

PENROSE LS.

Lancet. 1955 Aug 13;269(6885):312-3. No abstract available.

PMID:
13243724
2.

Lethal osteogenesis imperfecta and a gene deletion.

Sykes B, Ogilvie D.

Br Med J (Clin Res Ed). 1984 May 5;288(6427):1380-1. No abstract available.

3.

Isolation and characterization of a human collagen alpha 1(I)-like gene from a cosmid library.

Weiss EH, Cheah KS, Grosveld FG, Dahl HH, Solomon E, Flavell RA.

Nucleic Acids Res. 1982 Mar 25;10(6):1981-94.

4.

Normal somatomedin and somatomedin receptors in achondroplastic dwarfism.

Rosenfeld RG, Hintz RL.

Horm Metab Res. 1980 Feb;12(2):76-9.

PMID:
6245996
5.
6.

Identification and characterization of the human type II collagen gene (COL2A1).

Cheah KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E.

Proc Natl Acad Sci U S A. 1985 May;82(9):2555-9.

7.

Hypervariable 'minisatellite' regions in human DNA.

Jeffreys AJ, Wilson V, Thein SL.

Nature. 1985 Mar 7-13;314(6006):67-73.

PMID:
3856104
8.

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.

Sykes B, Smith R, Vipond S, Paterson C, Cheah K, Solomon E.

J Med Genet. 1985 Jun;22(3):187-91.

9.
10.

A new estimate of the achondroplasia mutation rate.

Gardner RJ.

Clin Genet. 1977 Jan;11(1):31-8.

PMID:
830446
11.

Biochemical analysis of epiphyseal cartilage during growth and in some osteochondrodysplasias.

Svejcar J.

Birth Defects Orig Artic Ser. 1975;11(6):227-30. No abstract available.

PMID:
127629

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