scholarly journals Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient

Glycobiology ◽  
2012 ◽  
Vol 22 (8) ◽  
pp. 1140-1144 ◽  
Author(s):  
Yoshinao Wada ◽  
Machiko Kadoya ◽  
Nobuhiko Okamoto
Keyword(s):  
Mass Spectrometry ◽  
Analytical Method ◽  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Simple Analytical Method ◽  
Apolipoprotein C

Autosomal Recessive Cutis Laxa Type 2

2009 ◽  
pp. 196-197
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

scholarly journals Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2

2013 ◽  
Vol 56 (6) ◽  
pp. 336-339 ◽  
Author(s):  
D.Z. Scherrer ◽  
M.B. Baptista ◽  
A.H.B. Matos ◽  
C.V. Maurer-Morelli ◽  
C.E. Steiner
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa
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