Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA-Reference-Cited by-同舟云学术

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA

Published:1992 Issue:5 Volume:1 Page:403-416
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Williams Charlene J.,Harrison David A.,Hopkinson Ian,Baldwin Clinton T.,Ahmad N. Nina,Ala-Kokko Leena,Korn Richard M.,Buxton Paul G.,Dimascio Jeffrey,Considine Eileen L.,Prockop Darwin J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference37 articles.

1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

2. Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): Variations in the nucleotide sequences of the alleles from three chromosomes

3. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

4. Efficient Procedure for Preparing Cosmid Libraries from Microgram Quantities of Genomic DNA Fragments Size Fractionated by Gel Electrophoresis

5. In situ hybridization localizes the human type II alpha 1 collagen gene (COL2A1) to 12q13

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