scholarly journals 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair

2016 ◽  
Vol 136 (9) ◽  
pp. S194
Author(s):  
A. Tanaka ◽  
Y. Matsuo ◽  
Y. Shimomura ◽  
M. Hide
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Japanese Patient ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

Expression studies of a novel splice site mutation in theLIPHgene identified in a Japanese patient with autosomal recessive woolly hair

2014 ◽  
Vol 41 (10) ◽  
pp. 890-894 ◽  
Author(s):  
Ryota Hayashi ◽  
Shigeki Inui ◽  
Muhammad Farooq ◽  
Masaaki Ito ◽  
Yutaka Shimomura
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Japanese Patient ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Expression Studies ◽  
Woolly Hair

Novel splice site mutation inLIPHidentified in a Japanese patient with autosomal recessive woolly hair

2016 ◽  
Vol 43 (11) ◽  
pp. 1384-1385 ◽  
Author(s):  
Yoshimi Matsuo ◽  
Akio Tanaka ◽  
Yutaka Shimomura ◽  
Michihiro Hide
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Japanese Patient ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair

2018 ◽  
Vol 46 (1) ◽  
pp. e19-e20 ◽  
Author(s):  
Nobuyuki Asano ◽  
Tomoko Okita ◽  
Shuichiro Yasuno ◽  
Michiya Yamaguchi ◽  
Keisuke Kashiwagi ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Japanese Family ◽  
Woolly Hair

A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia

2004 ◽  
Vol 116 (1-2) ◽  
pp. 114-120 ◽  
Author(s):  
Samuel Canizales-Quinteros ◽  
Carlos A. Aguilar-Salinas ◽  
Adriana Huertas-Vázquez ◽  
María L. Ordóñez-Sánchez ◽  
Maribel Rodríguez-Torres ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Recessive Hypercholesterolemia

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

1997 ◽  
Vol 236 (3) ◽  
pp. 544-548 ◽  
Author(s):  
Ellen A.C.M. van Beurden ◽  
Michelle de Graaf ◽  
Udo Wendel ◽  
Richard Gitzelmann ◽  
Ruud Berger ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Phosphorylase Kinase ◽  
Site Mutation ◽  
Gene Encoding ◽  
Gamma Subunit

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

2010 ◽  
Vol 162 (6) ◽  
pp. 1384-1387 ◽  
Author(s):  
C. Covaciu ◽  
M. Castori ◽  
N. De Luca ◽  
P. Ghirri ◽  
A. Nannipieri ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Epidermolytic Ichthyosis

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

2006 ◽  
Vol 16 (7) ◽  
pp. 432-436 ◽  
Author(s):  
Juliane S. Müller ◽  
Henriett Piko ◽  
Benedikt G.H. Schoser ◽  
Beate Schlotter-Weigel ◽  
Peter Reilich ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Site Mutation
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