scholarly journals Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

2021 ◽  
Author(s):  
Yousuke Higuchi ◽  
Kosei Hasegawa ◽  
Natsuko Futagawa ◽  
Miho Yamashita ◽  
Hiroyuki Tanaka ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Japanese Patients

Genetic analysis of the Gitelman syndrome coexisting with Osteogenesis imperfecta

2021 ◽  
Vol 518 ◽  
pp. 116-122
Author(s):  
Se Jin Park ◽  
Ju Young Kim ◽  
Hye-Jeong Ahn ◽  
Haing-Woon Baik ◽  
Ju Hyung Kang
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Gitelman Syndrome

Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria

2006 ◽  
Vol 33 (9) ◽  
pp. 603-608 ◽  
Author(s):  
Hiroshi SARUWATARI ◽  
Yuri UEKI ◽  
Shinichi YOTSUMOTO ◽  
Tokihiko SHIMADA ◽  
Seita FUKUMARU ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Japanese Patients ◽  
Erythropoietic Protoporphyria

Morphological and functional aspects of genetic analysis of osteogenesis imperfecta in cultured dermal fibroblasts

1992 ◽  
Vol 114 (1) ◽  
pp. 1028-1031
Author(s):  
E. M. Meerson ◽  
F. S. Barer ◽  
A. P. Berezhnyi ◽  
E. V. Prokhorova ◽  
T. P. Malyavko ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Dermal Fibroblasts ◽  
Functional Aspects

scholarly journals Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

1999 ◽  
Vol 75 (7) ◽  
pp. 207-212 ◽  
Author(s):  
Tsuyoshi MATSUMURA ◽  
Masashi AOKI ◽  
Atsushi NAGANO ◽  
Yukiko K. HAYASHI ◽  
Chie ASADA ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Japanese Patients ◽  
Molecular Genetic Analysis ◽  
Miyoshi Myopathy

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation

1995 ◽  
Vol 236 (1) ◽  
pp. 81-86 ◽  
Author(s):  
Hideo Sugie ◽  
Yoko Sugie ◽  
Masataka Ito ◽  
Tokiko Fukuda ◽  
Ikuya Nonaka ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Japanese Patients ◽  
Mcardle's Disease ◽  
Mcardle’S Disease

scholarly journals CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

2009 ◽  
Vol 17 (12) ◽  
pp. 1560-1569 ◽  
Author(s):  
Fleur S Van Dijk ◽  
Isabel M Nesbitt ◽  
Peter G J Nikkels ◽  
Ann Dalton ◽  
Ernie M H F Bongers ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

Genetic analysis of the cytochrome P-450c17α (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17α-hydroxylase deficiency

2001 ◽  
Vol 54 (6) ◽  
pp. 751-758 ◽  
Author(s):  
Yoshiyu Takeda ◽  
Takashi Yoneda ◽  
Masashi Demura ◽  
Kenji Furukawa ◽  
Hideo Koshida ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Japanese Patients ◽  
Hydroxylase Deficiency ◽  
Aldosterone Synthase
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