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A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4

A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4
Digital博士論文障害者向け資料あり
大木, 玲子大分大学2017
National Diet Library

Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3

Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3
Digital博士論文障害者向け資料あり
Jambaljav, Byambatseren2018-05-23
Available onlineNational Diet LibraryOther Libraries in Japan

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6.

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6.
Digital博士論文障害者向け資料あり
Hayashi, Ryota新潟大学2017-03-23
National Diet Library
  • Note (General)...potrichosis in a Japanese family.\ METHODS:We performed mutati...
  • Alternative Title... identified in a Japanese family with autosomal recessive wool...
  • Alternative Title... identified in a Japanese family with autosomal recessive wool...

Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene

Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene
Paper博士論文
Keiichi Uchiyama [著][Keiichi Uchiyama][2014]<UT51-2016-A436>
National Diet Library

A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family

A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family
Paper博士論文
Tomokazu Takeuchi [著][Tomokazu Takeuchi][2010]<UT51-2011-P901>
National Diet Library

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family
Paper博士論文
Mitsuko Nakashima [著][Mitsuko Nakashima][2008]<UT51-2008-J911>
National Diet Library

A novel mutation (967-970+2)delAAAGGT in the CHM gene found in a Japanese family and their clinical findings

A novel mutation (967-970+2)delAAAGGT in the CHM gene found in a Japanese family and their clinical findings
Paper博士論文
Iino Yutaka [著][Iino Yutaka][2008]<UT51-2008-Q77>
National Diet Library

My father's dying wish : legacies of war guilt in a Japanese family / Ayako Kurahashi ; translated into English by Philip Seaton ; with a foreword by Masaaki Noda.

My father's dying wish : legacies of war guilt in a Japanese family / Ayako Kurahashi ; translated into English by Philip Seaton ; with a foreword by Masaaki Noda.
Paper図書
Paulownia Press2009.<GB521-B44>
National Diet Library

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family : molecular genetic and immunohistochemical studies

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family : molecular genetic and immunohistochemical studies
Paper博士論文
Masayo Nomura [著][Masayo Nomura][2007]<UT51-2007-F147>
National Diet Library

Isami's house : three centuries of a Japanese family / Gail Lee Bernstein.

Isami's house : three centuries of a Japanese family / Gail Lee Bernstein.
Paper図書
University of California Pressc2005.<GK13-B5>
National Diet LibraryOther Libraries in Japan

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome
Paper博士論文
Tatsuro Miyamoto [著][Tatsuro Miyamoto][2006]<UT51-2006-G807>
National Diet Library

A novel complex mutation in GUCY2D in a Japanese family with cone-rod dystrophy

A novel complex mutation in GUCY2D in a Japanese family with cone-rod dystrophy
Paper博士論文
伊藤正 [著][伊藤正][2004]<UT51-2004-E557>
National Diet Library

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
Paper博士論文
Kazuki Komatsu [著][Kazuki Komatsu][2004]<UT51-2004-F412>
National Diet Library

A novel CLCN1 mutation : P480T in a Japanese family with Thomsen's myotonia congenita

A novel CLCN1 mutation : P480T in a Japanese family with Thomsen's myotonia congenita
Paper博士論文
R.Sasaki [著][R.Sasaki][2001]<UT51-2001-N403>
National Diet Library

Relations of television : genre and gender in the production, reception and text of a Japanese family drama / Katja Valaskivi. (Acta Univeritatis Tamperensis)

Relations of television : genre and gender in the production, reception and text of a Japanese family drama / Katja Valaskivi. (Acta Univeritatis Tamperensis)
Paper図書
University of Tampere1999.<KD617-A3>
National Diet Library

A novel mutation that leads to a congenital factor 11 deficiency in a Japanese family

A novel mutation that leads to a congenital factor 11 deficiency in a Japanese family
PaperDigital博士論文障害者向け資料あり
Eriko Sato [著][Eriko Sato][2000]<UT51-2000-P347>
Available onlineNational Diet Library

Prenatal diagnosis of a Japanese family at risk for Tay-Sach disease : Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method

Prenatal diagnosis of a Japanese family at risk for Tay-Sach disease : Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method
Paper博士論文
Shogo Tamasu [著][Shogo Tamasu][2002]<UT51-2002-P555>
National Diet Library

Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis

Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis
Paper博士論文
K Shiga [著][K Shiga][2000]<UT51-2003-Q408>
National Diet Library

New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome

New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome
PaperDigital博士論文障害者向け資料あり
古川ひさ子 [著]<UT51-97-G259>
Available onlineNational Diet Library

A novel point mutation in the uroporphyrinogen Ⅲ synthase gene causes congenital erythropoietic porphyria of a Japanese family

A novel point mutation in the uroporphyrinogen Ⅲ synthase gene causes congenital erythropoietic porphyria of a Japanese family
PaperDigital博士論文障害者向け資料あり
高村昇 [著]<UT51-97-S30>
Available onlineNational Diet Library
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