scholarly journals Cockayne syndrome type A: novel mutations in eight typical patients

2006 ◽  
Vol 51 (8) ◽  
pp. 701-705 ◽  
Author(s):  
Debora R. Bertola ◽  
Henian Cao ◽  
Lilian M. J. Albano ◽  
Daniela P. Oliveira ◽  
Fernando Kok ◽  
...  
Keyword(s):  
Type A ◽  
Cockayne Syndrome ◽  
Syndrome Type ◽  
Novel Mutations

Prenatal Diagnosis of Cockayne Syndrome Type A Based on the Identification of Two Novel Mutations in the ERCC8 Gene

2009 ◽  
Vol 13 (1) ◽  
pp. 127-131 ◽  
Author(s):  
Chiara Conte ◽  
Maria Rosaria D'Apice ◽  
Annalisa Botta ◽  
Federica Sangiuolo ◽  
Giuseppe Novelli
Keyword(s):  
Prenatal Diagnosis ◽  
Type A ◽  
Cockayne Syndrome ◽  
Syndrome Type ◽  
Novel Mutations

scholarly journals Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects

2005 ◽  
Vol 50 (3) ◽  
pp. 151-154 ◽  
Author(s):  
Andrew J. Ridley ◽  
James Colley ◽  
David Wynford-Thomas ◽  
Christopher J. Jones
Keyword(s):  
Xeroderma Pigmentosum ◽  
Type A ◽  
Cockayne Syndrome ◽  
Syndrome Type ◽  
Novel Mutations

scholarly journals Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence

2019 ◽  
Vol 139 (1) ◽  
pp. 38-50 ◽  
Author(s):  
Sonia Cordisco ◽  
Lavinia Tinaburri ◽  
Massimo Teson ◽  
Donata Orioli ◽  
Romilda Cardin ◽  
...  
Keyword(s):  
Type A ◽  
Human Keratinocytes ◽  
Cockayne Syndrome ◽  
Syndrome Type ◽  
Primary Human Keratinocytes

scholarly journals CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism

2003 ◽  
Vol 49 (1) ◽  
pp. 61-63 ◽  
Author(s):  
Henian Cao ◽  
Christina Williams ◽  
Monica Carter ◽  
Robert A. Hegele
Keyword(s):  
Type A ◽  
Cockayne Syndrome ◽  
Syndrome Type ◽  
Common Polymorphism

The patient experience of elosulfase alfa treatment for MPS IVA (Morquio syndrome type A): beyond traditional measures

2017 ◽  
Vol 120 (1-2) ◽  
pp. S70-S71
Author(s):  
James Jarrett ◽  
Mohit Jain ◽  
Charlotte Roberts ◽  
Alexandra Morrison
Keyword(s):  
Patient Experience ◽  
Type A ◽  
Syndrome Type ◽  
Mps Iva ◽  
Morquio Syndrome ◽  
Elosulfase Alfa

Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot

2008 ◽  
Vol 28 (4) ◽  
pp. 384-389 ◽  
Author(s):  
Setareh Mamishi ◽  
Mohammad Hossein Modarressi ◽  
Babak Pourakbari ◽  
Banafshe Tamizifar ◽  
Fatemeh Mahjoub ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Novel Mutations ◽  
Griscelli Syndrome
Sign in / Sign up

Export Citation Format

Share Document