06265157 is referenced by 7 patents and cites 3 patents.

Compositions and methods useful for determining whether a subject has an alteration in a gene encoding a protein chain of Type I or Type IX collagen are described. Novel intronic sequences of five human genes, COL1A1, COL1A2, COL9A1, COL9A2, and COL9A3 are described. Methods of determining the existence in a subject of a pathological condition associated with an altered gene encoding a Type I or Type IX collagen protein chain are provided, wherein such pathological conditions include diseases and disorders which are known to be associated with an altered gene encoding a Type I or Type IX collagen protein chain. Primers, probes, and methods of detecting a genetic predisposition of a subject for a pathological condition associated with an altered gene encoding a Type I or Type IX collagen protein chain are provided. Diseases and disorders for which the methods and compositions of the invention are useful for diagnostic or prognostic purposes include, but are not limited to osteoporosis, osteoarthritis, chondrodysplasia, multiple epiphyseal dysplasia, osteogenesis imperfecta, shortness of stature, scoliosis, low bone density, and degenerative joint disease.

Title
Compositions and methods for detecting altered COL1A1 gene sequences
Application Number
8/943731
Publication Number
6265157 (B1)
Application Date
October 3, 1997
Publication Date
July 24, 2001
Inventor
Petteri Paassilta
Oulu
US
Mirko Vuoristo
Oulu
US
Tero Pihlajamaa
Oulu
US
Susanna Annunen
Oulu
US
Leena Ala Kokko
Oulu
US
Jarmo Körkkö
Philadelphia
PA, US
James Early
Upper Darby
PA, US
Alain Colige
Philadelphia
PA, US
Michael Pack
Philadelphia
PA, US
Andrea Westerhausen Larson
Forrest Hills
PA, US
Larisa Sereda
Philadelphia
PA, US
Constantinos D Deltas
Nicosia
US
Loretta D Spotila
Haddonfield
NJ, US
Darwin J Prockop
Philadelphia
PA, US
Agent
Morgan Lewis & Bockius L
US
Assignee
University of Oulu
US
Thomas Jefferson University
PA, US
Allegheny University of the Health Sciences
PA, US
IPC
C12Q 1/68
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