Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity

We studied the growth hormone receptor (GHR) gene in 6 patients with Laron syndrome (LS) from 4 unrelated families. Exons 2 to 10 were amplified by PCR using specific intronic pairs of primers. The PCR products were directly sequenced. Our results showed that all 6 patients carried a homozygous GAG&...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Arquivos brasileiros de endocrinologia e metabologia 2005-06, Vol.49 (3), p.384-389
Hauptverfasser:	Jorge, Alexander A de Lima, Menezes Filho, Hamilton C de, Lins, Theresa S Soares, Guedes, Dulce Rondini, Damiani, Durval, Setian, Nuvarte, Arnhold, Ivo J Prado, Mendonça, Berenice B de
Format:	Artikel
Sprache:	por
Schlagworte:	Adolescent Adult Amino Acid Sequence Base Sequence Brazil Child Child, Preschool Christianity Ecuador Exons - genetics Female Founder Effect Human Growth Hormone - deficiency Humans Israel Jews Laron Syndrome - diagnosis Laron Syndrome - genetics Male Mutation - genetics Polymerase Chain Reaction Receptors, Somatotropin - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!