Volume 44; Issue 2

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Journal of Human Genetics
Volume 44; Issue 2

Journal of Human Genetics

Volume 44; Issue 2

1

A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria

Yasuyo Suzuki, Kazumi Oda, Yasuji Yoshikawa, Toyoki Maeda, T. Suzuki

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 182 KB

english, 1999

2

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies

Keiko Wakui, Mitsuyo Tanemura, Kaoru Suzumori, Eiko Hidaka, Masayo Ishikawa, Takeo Kubota, Y. Fukushima

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 272 KB

english, 1999

3

Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease

A. Tanaka, Mutsuko Fujimaru, Kyuchul Choeh, Gen Isshiki

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 344 KB

english, 1999

4

Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan

Yutaka Kitamura, Kaori Minobe, Tomoko Nakata, Kazuo Shimizu, Shigeo Tanaka, Minoru Fujimori, Shiro Yokoyama, Koichi Ito, Masahiko Onda, M. Emi

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 229 KB

english, 1999

5

Germline mutations of theAPCgene in Korean familial adenomatous polyposis patients

Yong-Jin Won, Kyu Joo Park, Hyuk-Joon Kwon, J.-H. Lee, J.-H. Kim, Young Jin Kim, Soo Han Chun, Hye-Jung Han, J.-G. Park

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 104 KB

english, 1999

6

Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan

R. Kira, Kenji Ihara, Kyoko Watanabe, Satomi Kanemitsu, Saif Uddin Ahmed, Kenjiro Gondo, Kenzo Takeshita, Toshiro Hara

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 62 KB

english, 1999

7

Isolation and chromosomal assignment of human genes encoding cofactor of LIM homeodomain proteins, CLIM1 and CLIM2

Nobuhide Ueki, Naohiko Seki, Kazuhiro Yano, Miki Ohira, Toshiyuki Saito, Yasuhiko Masuho, M. Muramatsu

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 162 KB

english, 1999

8

Isolation and characterization of a novel serine threonine kinase gene on chromosome 3p22-21.3

Mayumi Tamari, Yataro Daigo, Y. Nakamura

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 264 KB

english, 1999

9

A novel human gene whose product shares significant homology with the bovine brain-specific protein p25 on chromosome 5p15.3

Naohiko Seki, Atsushi Hattori, Sumio Sugano, Yutaka Suzuki, Akira Nakagawara, Masa-aki Muramatsu, Tada-aki Hori, T. Saito

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 92 KB

english, 1999

10

A novel nonsense mutation of thePEX7gene in a patient with rhizomelic chondrodysplasia punctata

N. Shimozawa, Yasuyuki Suzuki, Zhongyi Zhang, Kiyokuni Miura, Akiko Matsumoto, Masahiro Nagaya, Silvia Castillo-Taucher, Naomi Kondo

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 93 KB

english, 1999

11

Familial isolated noncompaction of ventricular myocardium

M. Matsuda, Masato Tsukahara, Osamu Kondoh, Hiroshi Mito

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 93 KB

english, 1999

12

Isolation and radiation hybrid mapping of a highly polymorphic CA repeat sequence at the human nuclear factor kappa-beta subunit 1 (NFKB1) locus

Nobutaka Ota, Toshiaki Nakajima, Yasumasa Shirai, M. Emi

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 79 KB

english, 1999

13

A Gln/Arg polymorphism at codon 349 of thehBUBR1gene

T. Katagiri, Manabu Futamura, Yusuke Nakamura

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 44 KB

english, 1999

14

Isolation and mapping of a polymorphic CA repeat sequence at the human VRK1 locus

Jun Sugimoto, Toshihiro Yamauchi, Toyomasa Hatakeyama, Masaharu Isobe, J. Sugimoto, T. Yamauchi, T. Hatakeyama, M. Isobe

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 69 KB

english, 1999

15

A novelSacI RFLP in the 3′ untranslated region of themyotonin protein kinasegene

Akinori Nakamura, Narihiro Minami, Toshiaki Kamitani, Keiko Kamakura, Kiichi Arahata, S. Takeda

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 107 KB

english, 1999

16

The human regulator of G-protein signaling protein 6 gene(RGS6)maps between markers WI-5202 and D14S277 on chromosome 14q24.3

Naohiko Seki, Atsushi Hattori, Akiko Hayashi, Sumie Kozuma, Tada-aki Hori, T. Saito

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 113 KB

english, 1999

17

Chromosomal assignment of a human apoptosis-associated tyrosine kinase gene on chromosome 17q25.3 by somatic hybrid analysis and fluorescencein situhybridization

Naohiko Seki, Akiko Hayashi, Atsushi Hattori, Sumie Kozuma, Miki Ohira, Tada-aki Hori, T. Saito

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 110 KB

english, 1999