Volume 48; Issue 2

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Journal of Human Genetics
Volume 48; Issue 2

Journal of Human Genetics

Volume 48; Issue 2

1

Molecular genetics of familial hypertrophic cardiomyopathy (FHC)

M. D. Bashyam, G. R. Savithri, M. S. Kumar, C. Narasimhan, P. Nallari

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 220 KB

english, 2003

2

Hypermethylation associated with inactivation of theSOCS-1gene, a JAK/STAT inhibitor, in human hepatoblastomas

H. Nagai, T. Naka, Y. Terada, T. Komazaki, A. Yabe, E. Jin, O. Kawanami, T. Kishimoto, N. Konishi, M. Nakamura, Y. Kobayashi, M. Emi

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 284 KB

english, 2003

3

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria

Å. Wiman, Y. Floderus, P. Harper

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 278 KB

english, 2003

4

Association of the –381T/C promoter variation of the brain natriuretic peptide gene with low bone-mineral density and rapid postmenopausal bone loss

M. Kajita, Y. Ezura, H. Iwasaki, R. Ishida, H. Yoshida, M. Kodaira, T. Suzuki, T. Hosoi, S. Inoue, M. Shiraki, H. Orimo, M. Emi

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 210 KB

english, 2003

5

Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene

H. Ohmori, Y. Makita, M. Funamizu, S. Chiba, K. Ohtani, Y. Suzuki, N. Wakamiya, A. Hata

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 198 KB

english, 2003

6

A novel mutation of the insulin-like 3 gene in patients with cryptorchidism

P. Canto, I. Escudero, D. Söderlund, E. Nishimura, S. Carranza-Lira, J. Gutierrez, A. Nava, J. P. Mendez

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 230 KB

english, 2003

7

Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin α-2 gene

R. M. Coral-Vazquez, H. Rosas-Vargas, P. Meza-Espinosa, I. Mendoza, J. C. Huicochea, G. Ramon, F. Salamanca

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 658 KB

english, 2003

8

Isolation and characterization of a novel humanNM23-H1Bgene, a different transcript ofNM23-H1

X. Ni, S. Gu, J. Dai, H. Cheng, L. Guo, L. Li, C. Ji, Y. Xie, K. Ying, Y. Mao

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 372 KB

english, 2003

9

Molecular cloning and characterization of the protein 4.1O gene, a novel member of the protein 4.1 family with focal expression in ovary

X. Ni, C. Ji, G. Cao, H. Cheng, L. Guo, S. Gu, K. Ying, R. C. Zhao, Y. Mao

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 669 KB

english, 2003

10

Identification of two novelRECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite

G. Roversi, A. Beghini, G. Zambruno, M. Paradisi, L. Larizza

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 185 KB

english, 2003