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Titolo:
SEVERE GROWTH-HORMONE INSENSITIVITY (LARON SYNDROME) DUE TO NONSENSE MUTATION OF THE GH RECEPTOR IN BROTHERS FROM RUSSIA
Autore:
ROSENBLOOM AL; BERG MA; KASATKINA EP; VOLKOVA TN; SKOROBOGATOVA VF; SOKOLOVSKAYA VN; FRANCKE U;
Indirizzi:
BOX 100296 GAINESVILLE FL 32610 UNIV FLORIDA,DEPT PEDIAT,DIV ENDOCRINOL GAINESVILLE FL 00000 STANFORD UNIV,MED CTR,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT PEDIAT STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT GENET STANFORD CA 94305 RUSSIAN ACAD ADV MED STUDIES,DEPT PEDIAT & ADOLESCENT ENDOCRINOL MOSCOW RUSSIA
Titolo Testata:
Journal of pediatric endocrinology & metabolism
fascicolo: 3, volume: 8, anno: 1995,
pagine: 159 - 165
SICI:
0334-018X(1995)8:3<159:SGI(SD>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
BINDING-PROTEIN; DWARFISM; GENE; DEFICIENCY; ABSENCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
A.L. Rosenbloom et al., "SEVERE GROWTH-HORMONE INSENSITIVITY (LARON SYNDROME) DUE TO NONSENSE MUTATION OF THE GH RECEPTOR IN BROTHERS FROM RUSSIA", Journal of pediatric endocrinology & metabolism, 8(3), 1995, pp. 159-165

Abstract

Primary GH insensitivity (Laron syndrome) due to GH receptor deficiency (GHRD) is an autosomal recessive condition characterized by severe growth failure, Diverse alterations in the GHR gene have been reportedin affected individuals. We report here the first family with GHRD from Russia, with two affected siblings and consanguineous parents, Analysis of blood spot DNA by polymerase chain reaction (PCR), denaturing gradiant gel electrophoresis, and nucleotide sequencing indicated thatthese siblings are homozygous for a nonsense mutation, R43X, in the GHR gene. The R43X mutation, which changes an arginine codon to a translational stop codon, occurs at dinucleotide mutational hotspot and previously been identified in affected individuals of Mediterranean and Ecuadorian origin.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 02:55:28