Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19 (Q28259445)

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I M Rasmussen

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J L Weber

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J Yuen

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K Reinker

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A P Garber

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D H Cohn

Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene

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language of work or name

English

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publication date

December 1993

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published in

Genomics

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volume

18

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issue

3

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page(s)

656-60

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cites work

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Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia

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Linkage of typical pseudoachondroplasia to chromosome 19

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Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

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International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone

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Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

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The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia

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The biochemical defect of pseudoachondroplasia

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Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage

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Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

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Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers

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A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

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Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.

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A second-generation linkage map of the human genome

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Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

8307576

1 reference

Consolidated OpenCitations Corpus – April 2017