Highly polymorphic sequence variation in calcineurin B coding region (PPP3R1)

Lin, Margaret J.; Parsia, Sam S.; Papolos, Demitri F.; Lachman, Herbert M.

doi:10.1093/hmg/3.3.520-a

Hum Mol Genet

1994

DOI: 10.1093/hmg/3.3.520-a

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Highly polymorphic sequence variation in calcineurin B coding region (PPP3R1)

Margaret J. Lin

Sam S. Parsia

Demitri F. Papolos

et al.

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“…Six unrelated kindreds with Carney complex were screened; no abnormal pattern of migration was observed in any amplicons, with the exception of that containing exon 1 in one patient. Subsequent genomic DNA sequencing revealed that the patient was heterozygous for the C to T polymorphism at codon 32 of the gene (Lin et al, 1994).…”

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confidence: 99%

Structure of the Gene Coding for Calcineurin B(PPP3R1)and Mapping to D2S358-D2S1778 (Chromosomal Region 2p15)

Stratakis¹,

Taymans²

1998

DNA Sequence

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Calcineurin is a protein phosphatase with an important role in signal transduction; its calcium-binding regulatory subunit, calcineurin B, is widely present in the brain and is coded by the PPP3R1 gene which was mapped recently to human chromosome 2. Calcineurin has long been considered a candidate for psychiatric and/or monogenic brain disorders. The present study reports the intron-exon structure of the PPP3R1 gene with the proximal intronic sequences, its genetic mapping to D25358-D251778 on chromosome 2p15, and its exclusion in a genetic disorder mapped proximal to this locus.

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mentioning

confidence: 99%

Structure of the Gene Coding for Calcineurin B(PPP3R1)and Mapping to D2S358-D2S1778 (Chromosomal Region 2p15)

Stratakis¹,

Taymans²

1998

DNA Sequence

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Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14

Warner

2005

Journal of Medical Genetics

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Highly polymorphic sequence variation in calcineurin B coding region (PPP3R1)

Cited by 2 publications

References 0 publications

Structure of the Gene Coding for Calcineurin B(PPP3R1)and Mapping to D2S358-D2S1778 (Chromosomal Region 2p15)

Structure of the Gene Coding for Calcineurin B(PPP3R1)and Mapping to D2S358-D2S1778 (Chromosomal Region 2p15)

Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14

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