Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

2014 ◽  
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Author(s):  
Martin Krahn ◽  
Christophe Beroud ◽  
Jianying Xi ◽  
Gaelle Blandin ◽  
Jiahong Lu ◽  
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Keyword(s):  
Clinical Heterogeneity ◽  
Novel Mutations ◽  
Chinese Cohort

C.P.3 Genetic and clinical heterogeneity of RYR1-related myopathies in a cohort of 60 Dutch families with identification of 40 novel mutations

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N.C. Voermans ◽  
H. Jungbluth ◽  
J. Raaphorst ◽  
M. Snoeck ◽  
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Clinical Heterogeneity ◽  
Novel Mutations

scholarly journals Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

1998 ◽  
Vol 35 (8) ◽  
pp. 650-656 ◽  
Author(s):  
D R Sjarif ◽  
R J Sinke ◽  
M Duran ◽  
F A Beemer ◽  
W J Kleijer ◽  
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Glycerol Kinase ◽  
Clinical Heterogeneity ◽  
Novel Mutations ◽  
Kinase Gene ◽  
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Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations

2019 ◽  
Vol 39 (3) ◽  
pp. 309-315
Author(s):  
Bijun Sun ◽  
Qiuyu Chen ◽  
Xiaolong Dong ◽  
Danru Liu ◽  
Jia Hou ◽  
...  
Keyword(s):  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Novel Mutations ◽  
Chinese Cohort

scholarly journals Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

2010 ◽  
Vol 31 (1) ◽  
pp. E1071-E1080 ◽  
Author(s):  
Alessandra Pangrazio ◽  
Michael Pusch ◽  
Elena Caldana ◽  
Annalisa Frattini ◽  
Edoardo Lanino ◽  
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Keyword(s):  
Clinical Heterogeneity ◽  
Novel Mutations

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

2016 ◽  
Author(s):  
Cong Zhang ◽  
Yan Jiang ◽  
Xiaoping Xing ◽  
Mei Li ◽  
Ou Wang ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Novel Mutations
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