Pseudohypoparathyroidism type lb with disturbed imprinting in the GNAS1 cluster and Gsα deficiency in platelets

Human Molecular Genetics

Volumn 11, Issue 22, 2002, Pages 2741-2750

  Freson, Kathleen ^a   Thys, Chantal ^a   Wittevrongel, Christine ^a   Proesmans, Willem ^b   Hoylaerts, Marc F ^a   Vermylen, Jos ^a   Van Geet, Chris ^a,b  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; DNA; GENE PRODUCT; PARATHYROID HORMONE; PROTEIN GNAS1; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG; HETEROTRIMERIC GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DEMETHYLATION; DNA METHYLATION; EXON; FEMALE; GENE CLUSTER; GENE EXPRESSION; GENE SEQUENCE; GENOME IMPRINTING; HUMAN; HUMAN CELL; HYPERPHOSPHATEMIA; HYPOCALCEMIA; HYPOTHESIS; KIDNEY PROXIMAL TUBULE; LEUKOCYTE; MEGAKARYOCYTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PSEUDOHYPOPARATHYROIDISM; THROMBOCYTE; TRANSCRIPTION REGULATION; ALTERNATIVE RNA SPLICING; BLOOD; CLASSIFICATION; GENETICS; MALE; METABOLISM; MULTIGENE FAMILY; PEDIGREE;

MAMMALIA;

ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; BLOOD PLATELETS; DNA; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; LEUKOCYTES; MALE; MULTIGENE FAMILY; PEDIGREE; PSEUDOHYPOPARATHYROIDISM;

EID: 0037107349     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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