The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3

Proceedings of the National Academy of Sciences of the United States of America

Volumn 95, Issue 20, 1998, Pages 11798-11803

  Juppner H ^a   Schipani, E ^a   Bastepe, M ^a   Cole, D E C ^b   Lawson, M L ^c   Mannstadt, M ^a   Hendy, G N ^d   Plotkin, H ^g   Koshiyama, H ^e   Koh, T ^f   Crawford, J D ^a   Olsen, B R ^h   Vikkula, M ^h,i  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF TORONTO   (Canada)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d ROYAL VICTORIA HOSPITAL   (Canada)

^e HYOGO PREFECTURAL AMAGASAKI GENERAL MEDICAL CENTER   (Japan)

^f KYOTO CITY HOSPITAL   (Japan)

^g VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GUANINE NUCLEOTIDE BINDING PROTEIN; PARATHYROID HORMONE; PARATHYROID HORMONE RECEPTOR; PARATHYROID HORMONE RELATED PROTEIN;

ARTICLE; CHROMOSOME 20Q; CHROMOSOME MAP; GENE MUTATION; GENOME IMPRINTING; HORMONE RESISTANCE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; GENOMIC IMPRINTING; GTP-BINDING PROTEINS; HAPLOTYPES; HUMANS; HYPOCALCEMIA; LINKAGE (GENETICS); LOD SCORE; MALE; MUTATION; PEDIGREE; PSEUDOHYPOPARATHYROIDISM;

EID: 13144250154     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.95.20.11798     Document Type: Article

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