Paternal uniparental isodisomy of chromosome 20q - And the resulting changes in GNAS1 methylation - As a plausible cause of pseudohypoparathyroidism

American Journal of Human Genetics

Volumn 68, Issue 5, 2001, Pages 1283-1289

  Bastepe, Murat ^a   Lane, Andrew H ^b   Jöppner, Harald ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b STONY BROOK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; GUANINE NUCLEOTIDE BINDING PROTEIN; PARATHYROID HORMONE; PROTEIN SUBUNIT; THYROXINE;

ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 20Q; GENE; GENE MUTATION; GENOME IMPRINTING; GNAS1 GENE; HETEROZYGOTE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; MALE; METHYLATION; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; UNIPARENTAL DISOMY;

EID: 0035013623     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320117     Document Type: Article

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