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Achondroplasia is not caused by mutation in the gene for type II collagen.

Francomano(C A),Pyeritz(R E) Am J Med Genet 1988-08-31

...COL2A1, the structural gene for type II collagen. Two lines of evidence speak against mutation in COL2A1 as the cause of...

The Stickler syndrome: evidence for close linkage to the structural gene for ...

Francomano(C A),Liberfarb(R M),Hirose(T),M... Genomics 1988-06-16

...COL2A1. No recombinants between the Stickler phenotype and COL2A1 were observed. The total LOD score for linkage of the ...

Structural and segregation analysis of the type II collagen gene (COL2A1) in ...

Wordsworth(P),Ogilvie(D),Priestley(L),Smit... J Med Genet 1988-11-23

...COL2A1) was studied in 19 pedigrees using three restriction site dimorphisms (shown by PvuII, HindIII, and BamHI) and a ...

Joint mobility with particular reference to racial variation and inherited co...

Wordsworth(P),Ogilvie(D),Smith(R),Sykes(B) Br J Rheumatol 1987-04-13

...COL2A1).

Evidence against the structural gene encoding type II collagen (COL2A1) as th...

Ogilvie(D),Wordsworth(P),Thompson(E),Sykes(B) J Med Genet 1986-04-02

...COL2A1) was studied in a total of 19 cases of achondroplasia. No gross rearrangements were seen. The segregation of COL2...

Further evidence for the dispersion of the human fibrillar collagen genes.

Huerre-Jeanpierre(C),Mattei(M G),Weil(D),G... Am J Hum Genet 1986-02-24

...COL2A1) is located on chromosome 12 in the segment 12q131----12q132. Likewise, the gene coding for the pro alpha 1 chain...

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

Cheah(K S),Stoker(N G),Griffin(J R),Grosve... Proc Natl Acad Sci U S A 1985-06-20

...COL2A1. The clone appears to contain the whole gene (30 kilobases in length) and will be extremely useful in the study o...

Chromosomal assignments of the genes coding for human types II, III, and IV c...

Solomon(E),Hiorns(L R),Spurr(N),Kurkinen(M... Proc Natl Acad Sci U S A 1985-06-25

The human type II collagen gene, COL2A1, has been assigned to chromosome 12, the type III gene, COL3A1, to chromosome 2,...

Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in ...

Wordsworth(P),Ogilvie(D),Smith(R),Sykes(B) Ann Rheum Dis 1985-09-11

We have used a high frequency site polymorphism within the human pro-alpha 1(II) collagen gene (COL2A1) in order to exam...

Localization of human type II procollagen gene (COL2A1) to chromosome 12.

Strom(C M),Eddy(R L),Shows(T B) Somat Cell Mol Genet 1985-01-14

...COL2A1). The mouse DNA yielded a single band at greater than 10 kb, whereas the human DNA had the expected single band a...

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