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Journal of Human Genetics|August 16, 2002
Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyriaAsa Wiman, Ylva Floderus, Pauline HarperJournal of Human Genetics|August 31, 2002
Chromosome 3p and breast cancerQifeng Yang, Goro Yoshimura, Ichiro Mori, et al.Journal of Human Genetics|August 31, 2002
MYEOV, a gene at 11q13, is coamplified with CCND1, but epigenetically inactivated in a subset of esophageal squamous cell carcinomasJohannes W G Janssen, Issei Imoto, Jun Inoue, et al.Journal of Human Genetics|August 31, 2002
Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's diseaseKeiko Yamazaki, Masakazu Takazoe, Torao Tanaka, et al.Journal of Human Genetics|August 31, 2002
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathwayYukio Watanabe, Akira Kinoshita, Takahiro Yamada, et al.Journal of Human Genetics|August 31, 2002
A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brainLi Zeng, Chengzhi Zhang, Jian Xu, et al.Journal of Human Genetics|February 1, 2003
Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysisShuji Ogino, Robert B WilsonJournal of Human Genetics|October 21, 2016
Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acidXiao-Jie Xu, Fang Lv, Yi Liu, et al.Journal of Human Genetics|October 14, 2016
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in OmanFlavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, et al.Journal of Human Genetics|March 31, 2017
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndromeAnju Shukla, Malavika Hebbar, Anshika Srivastava, et al.Pageof 351