Exon Splice Enhancer Mutation (GH-E32A) Causes Autosomal Dominant Growth Hormone Deficiency | Zendy

Vibor Petkovic | Zendy; Didier Lochmatter | Zendy; James Turton | Zendy; Peter Clayton | Zendy; Peter Trainer | Zendy; Mehul Dattani | Zendy; Andrée Eblé | Zendy; Iain C. A. F. Robinson | Zendy; Christa E. Flück | Zendy; Primus E. Mullis | Zendy

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Exon Splice Enhancer Mutation (GH-E32A) Causes Autosomal Dominant Growth Hormone Deficiency

Author(s) -

Vibor Petkovic,

Didier Lochmatter,

James Turton,

Peter Clayton,

Peter Trainer,

Mehul Dattani,

Andrée Eblé,

Iain C. A. F. Robinson,

Christa E. Flück,

Primus E. Mullis

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-0857

Subject(s) - exon , biology , gene isoform , ighd , rna splicing , microbiology and biotechnology , mutation , splice site mutation , intron , endocrinology , alternative splicing , splice , medicine , gene , genetics , growth hormone , rna , growth hormone deficiency , hormone

Alteration of exon splice enhancers (ESE) may cause autosomal dominant GH deficiency (IGHD II). Disruption analysis of a (GAA) (n) ESE motif within exon 3 by introducing single-base mutations has shown that single nucleotide mutations within ESE1 affect pre-mRNA splicing.

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