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Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (...

Anderson(I J),Goldberg(R B),Marion(R W),Up... Am J Hum Genet 1990-06-20

...COL2A1 gene-associated RFLPs. A total of 17 affected and unaffected members of this family were studied. The family was ...

Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 b...

Labuda(M),Morgan(K),Glorieux(F H) Am J Hum Genet 1990-07-12

...COL2A1) locus and clustered loci D12S14, D12S17, and D12S6, which segregate as a three-marker haplotype. Linkage disequi...

Tandem duplication within a type II collagen gene (COL2A1) exon in an individ...

Tiller(G E),Rimoin(D L),Murray(L W),Cohn(D H) Proc Natl Acad Sci U S A 1990-06-21

...COL2A1) that produces a form of spondyloepiphyseal dysplasia. The mutation is an internal tandem duplication of 45 base ...

Type II achondrogenesis-hypochondrogenesis: identification of abnormal type I...

Godfrey(M),Hollister(D W) Am J Hum Genet 1989-01-04

...COL2A1 gene may cause type II achondrogenesis-hypochondrogenesis. More generally, emerging data implicating defects of t...

Identification of the molecular defect in a family with spondyloepiphyseal dy...

Lee(B),Vissing(H),Ramirez(F),Rogers(D),Rim... Science 1989-07-06

...COL2A1) has been directly examined in a relatively large SED family. Coarse scanning of the gene by Southern blot hybrid...

Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndro...

Knowlton(R G),Weaver(E J),Struyk(A F),Knob... Am J Hum Genet 1989-12-08

...COL2A1). Genetic linkage between AO and COL2A1 was demonstrated in the largest family, with a maximum LOD score of 3.52 ...

In situ hybridization localizes the human type II alpha 1 collagen gene (COL2...

Arheden(K),Mandahl(N),Heim(S),Mitelman(F) Hereditas 1989-08-22

We have, using in situ hybridization technique, localized the human type II alpha 1 collagen gene (COL2A1) to chromosome...

No amplification or rearrangement of INT1, GLI, or COL2A1 in uterine leiomyom...

Arheden(K),Nilbert(M),Heim(S),Mandahl(N),M... Cancer Genet Cytogenet 1989-09-05

...COL2A1. No rearrangement or amplification could be detected for any of the three gene sequences.

Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.

Elima(K),Kaitila(I),Mikonoja(L),Elonsalo(U... J Med Genet 1989-07-27

The involvement of the cartilage specific type II collagen gene (COL2A1) was studied in nine patients with diastrophic d...

The human type II collagen gene (COL2A1) assigned to 12q14.3.

Law(M L),Tung(L),Morse(H G),Berger(R),Jone... Ann Hum Genet 1988-03-18

...COL2A1) was used as probe in the Southern analysis of DNA from a panel of human/hamster somatic cell hybrids containing ...

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