Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.

doi:10.1038/ng0294-163

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Article

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.

Nature genetics - 1 Feb 1994

Reed M L, Leff S E

Abstract excerpt

Prader-Willi syndrome (PWS), a human neuroendocrine disorder, is associated with deficiencies of paternal chromosome 15q12. Small nuclear ribonucleoprotein polypeptide N (SNRPN) is the first expressed gene identified in the PWS critically deleted region. Following our demonstration that the murin...

Topics

Alleles
Autoantigens
Base Sequence
Brain Chemistry
Cell Line, Transformed
DNA
Female
Fetus
Gene Deletion
Humans
Molecular Sequence Data
Mothers
Myocardium
Polymerase Chain Reaction
Polymorphism, Genetic
Prader-Willi Syndrome
RNA
Ribonucleoproteins, Small Nuclear

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