Volume 44; Issue 6

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Journal of Human Genetics
Volume 44; Issue 6

Journal of Human Genetics

Volume 44; Issue 6

1

Chromosomal imbalances in adult T-cell leukemia revealed by comparative genomic hybridization: gains at 14q32 and 2p16-22 in cell lines

Y. Ariyama, T. Mori, T. Shinomiya, T. Sakabe, Y. Fukuda, A. Kanamaru, Y. Yamada, M. Isobe, M. Seto, Y. Nakamura, J. Inazawa

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 415 KB

english, 1999

2

A novelLDLRmutation, H190Y, in a Utah kindred with familial Hypercholesterolemia

P. N. Hopkins, L. L. Wu, S. H. Stephenson, Y. Xin, H. Katsumata, Y. Nobe, T. Nakajima, T. Hirayama, M. Emi, R.R. Williams (posthumous)

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 367 KB

english, 1999

3

Mutation screening of phenylketonuria in the Far East of Russia

H. Sueoka, A. Moshinetsky, M. Nagao, S. Chiba

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 67 KB

english, 1999

4

Mapping of a gene responsible for dermatitis in NOA (Naruto Research Institute Otsuka Atrichia) mice, an animal model of allergic dermatitis

K. Natori, M. Tamari, O. Watanabe, Y. Onouchi, Y. Shiomoto, S. Kubo, Y. Nakamura

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 204 KB

english, 1999

5

Molecular characterization of galactokinase deficiency in Japanese patients

M. Asada, Y. Okano, T. Imamura, I. Suyama, Y. Hase, G. Isshiki

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 329 KB

english, 1999

6

C16orf5, a novel proline-rich gene at 16p13.3, is highly expressed in the brain

Kavita Bhalla, Helen J. Eyre, Scott A. Whitmore, Grant R. Sutherland, David F. Callen

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 399 KB

english, 1999

7

Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity

B. J. Scrimshaw, J. M. Faed, W. P. Tate, K. Yun

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 373 KB

english, 1999

8

Mutational analysis ofTSC1andTSC2genes in Japanese patients with tuberous sclerosis complex

H. Zhang, E. Nanba, T. Yamamoto, H. Ninomiya, K. Ohno, M. Mizuguchi, K. Takeshita

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 238 KB

english, 1999

9

Cloning and characterization of the human UDP-N-acetylglucosamine: α-1,3-D-mannoside β-1,4-N-acetylglucosaminyltransferase IV-homologue (hGnT-IV-H) gene

T. Furukawa, E. M. Youssef, T. Yatsuoka, T. Yokoyama, N. Makino, H. Inoue, S. Fukushige, M. Hoshi, Y. Hayashi, M. Sunamura, A. Horii

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 233 KB

english, 1999

10

Genomic structure and chromosomal mapping of the human sterol regulatory element binding protein (SREBP) cleavage-activating protein (SCAP) gene

T. Nakajima, T. Hamakubo, T. Kodama, J. Inazawa, M. Emi

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 200 KB

english, 1999

11

The human caspase-activated DNase gene (hCAD): genomic structure, exonic single-nucleotide polymorphisms, and a highly polymorphic dinucleotide repeat at thehCADlocus

N. Sugimoto, Y. Fukuda, F. Saito-Ohara, R. Kamiyama, A. Nakagawara, N. Mukae, S. Nagata, J. Inazawa

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 186 KB

english, 1999

12

Prader-Willi syndrome in a child with XYY

A. Honma, R. Ishii, A. Ito, M. Kato, S. Saitoh, K. Hayasaka

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 38 KB

english, 1999

13

A polymorphic CA repeat marker at the human 27-kD calbindin (CALB1) locus

Ken-ichi Morishima, Shinya Matsuura, Hiroshi Tauchi, Asako Nakamura, Kenshi Komatsu

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 41 KB

english, 1999

14

Novel polymorphisms in the upstream region of the human dopamine D4 receptor (DRD4) gene

Hiroshi Mitsuyasu, Hidetoshi Ozawa, Yasuhiko Takeda, Yasuyuki Fukumaki

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 102 KB

english, 1999

15

CA repeat polymorphism in the promoter region of theCOL1A2gene

Erin Dietzsch, M. Iqbal Parker

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 42 KB

english, 1999

16

A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene

Kikumi Iwaki, Toshiaki Nakajima, Nobutaka Ota, Mitsuru Emi

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 85 KB

english, 1999

17

An Ile/Val polymorphism at codon 1464 of theATP7Agene

A. Ogawa, S. Yamamoto, M. Takayanagi, T. Kogo, M. Kanazawa, Y. Kohno

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 73 KB

english, 1999

18

Dinucleotide repeat polymorphism in the third intron of theNRAMP2/DMT1gene

F. Kishi, S. Fujishima, M. Tabuchi

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 124 KB

english, 1999

19

Novel variants in the promoter region of the CREB gene in schizophrenic patients

Y. Kawanishi, S. Harada, H. Tachikawa, T. Okubo, H. Shiraishi

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 59 KB

english, 1999