Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1

American Journal of Human Genetics

Volumn 73, Issue 2, 2003, Pages 314-322

  De Beur, Suzanne Jan ^a   Ding, Changlin ^a   Germain Lee, Emily ^a   Cho, Justin ^a   Maret, Alexander ^a   Levine, Michael A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PARATHYROID HORMONE;

ALLELE; ARTICLE; DISEASE TRANSMISSION; DNA METHYLATION; EXON; FEMALE; GENE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GNAS1 GENE; HAPLOTYPE; HORMONE ACTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1B;

EID: 0042165833     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/377136     Document Type: Article

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