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COL27A1 gene

Known as: COLLAGEN, TYPE XXVII, ALPHA-1, FLJ11895, MGC11337 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation
Steel syndrome was initially described by H. H. Steel in 1993 in Puerto Rico, at which time he described the clinical findings… 
Review
2020
Review
2020
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.
2017
2017
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss
Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first… 
2015
2015
La storia come mezzo: l’Odisseo mediatore di Polibio
The text inquires into the meaning of Polybius’ references to Odysseus advancing the hypothesis of reconstructive mediation. The… 
2015
2015
El derecho constitucional a la prueba judicial
El presente estudio tiene la finalidad de presentar el derecho a la prueba en la jurisprudencia de la Corte Constitucional… 
Review
2010
Review
2010
An analytical study of recognition and enforcement of foreign arbitral awards in the GCC states
II ACKNOWLEDGEMENT III TABLE OF CONTENTS IV INTRODUCTION 1 CHAPTER ONE AN OVERVIEW OF THE LEGAL SYSTEM OF GCC COUNTRIES 1. 
2006
2006
Estudios en las Apocynaceae Neotropicales XXVII: lectotipificaciones misceláneas en el género Prestonia (Apocynoideae, Echiteae)
As part of the results of a monograph of the genus Prestonia (Apocynoideae, Echiteae), lectotypes are here designated for the… 
2003
2003
Explaining the Collapse of the British Electrical Supply Industry in the 1880 s : Gas versus Electric Lighting Prices
In the late 1870s there was a tremendous interest in the development of electric lighting, which at long last looked to become… 
2000
2000
Triterpene saponins from Randia formosa.
Review
1997
Review
1997
Groundwater in the urban environment : proceedings of the XXVII IAH Congress on Groundwater in the Urban Environment/Nottingham/UK/21-27 September 1997
Groundwater plays a critical, but complex and often unrecognised, role in the urban environment. In many cases it is of major… 
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