A heterozygous 4-bp deletion mutation in the Gsα gene (GNAS1) in a patient with albright hereditary osteodystrophy

Genomics

Volumn 13, Issue 4, 1992, Pages 1319-1321

  Weinstein, Lee S ^a,b   Gejman, Pablo V ^a,b   de Mazancourt, Philippe ^a,b   American, Nadine ^a,b   Spiegel, Allen M ^a,b  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN;

ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC DISORDER; HUMAN; MUTATION; POLYMERASE CHAIN REACTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, NORTHERN; CHROMOSOME DELETION; DNA; ELECTROPHORESIS, AGAR GEL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FRAMESHIFT MUTATION; GTP-BINDING PROTEINS; HETEROZYGOTE; HUMAN; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; PSEUDOHYPOPARATHYROIDISM; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T; TRANSCRIPTION, GENETIC;

EID: 0026672057     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/0888-7543(92)90056-X     Document Type: Article

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