Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)

Journal article

Peer reviewed

David M Brown, Kim Vandenburgh, Alan E Kimura, Thomas A Weingeist, Val C Sheffield and Edwin M Stone

Human molecular genetics, Vol.4(1), pp.141-142

1995

DOI: 10.1093/hmg/4.1.141

PMID: 7711727

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no abstract

Biological and medical sciences

Medical sciences

Diseases of the osteoarticular system

Malformations and congenital and or hereditary diseases involving bones. Joint deformations

Title: Subtitle: Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)
Creators: David M Brown - Univ. Iowa coll. medicine, dep. ophthalmology, Iowa City IA 52242, United States
Kim Vandenburgh - Univ. Iowa coll. medicine, dep. ophthalmology, Iowa City IA 52242, United States
Alan E Kimura - Univ. Iowa coll. medicine, dep. ophthalmology, Iowa City IA 52242, United States
Thomas A Weingeist - Univ. Iowa coll. medicine, dep. ophthalmology, Iowa City IA 52242, United States
Val C Sheffield - Univ. Iowa coll. medicine, dep. ophthalmology, Iowa City IA 52242, United States
Edwin M Stone - Univ. Iowa coll. medicine, dep. ophthalmology, Iowa City IA 52242, United States
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.4(1), pp.141-142
Publisher: Oxford University Press; Oxford
DOI: 10.1093/hmg/4.1.141
PMID: 7711727
ISSN: 0964-6906
eISSN: 1460-2083
Language: English
Date published: 1995
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984065377302771

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