Concepedia

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

Tohru Yorifuji, Masahiko Kawai, Junko Muroi, Mitsukazu Mamada, Keiji Kurokawa, Yosuke Shigematsu, Satoko Hirano, Nobuo Sakura, Ichiro Yoshida, Tomiko Kuhara,

Human Genetics · 2002 · 56 citations · 15 references

DOI

Concepts

References

15

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

Hongxiang Liu, Michael Q. Zhang, Adrian R. Krainer · Genes & Development · 1998 · 511 citations · Full text

, , +17

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

Hong‐Xiang Liu, Luca Cartegni, Michael Q. Zhang et al. · Nature Genetics · 2001 · 474 citations

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Exonic Splicing Enhancer Motif Recognized by Human SC35 under Splicing Conditions

Hongxiang Liu, Shern L. Chew, Luca Cartegni et al. · Molecular and Cellular Biology · 2000 · 244 citations · Full text

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Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.

A.M. Lamhonwah, Teresa J. Barankiewicz, H.F. Willard et al. · Proceedings of the National Academy of Sciences · 1986 · 102 citations · Full text

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Neurologic Nonmetabolic Presentation of Propionic Acidemia

William L. Nyhan, Carolyn Bay · Archives of Neurology · 1999 · 98 citations

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