Functional SNPs within the Intron 1 of the PROP1 Gene Contribute to Combined Growth Hormone Deficiency (CPHD) | Zendy

Michela Godi | Zendy; Simona Mellone | Zendy; Luigi Tiradani | Zendy; Rita Marabese | Zendy; Claudio Bardelli | Zendy; Mariacarolina Salerno | Zendy; Flavia Prodam | Zendy; Simonetta Bellone | Zendy; Antonella Petri | Zendy; Patricia MomiglianoRichiardi | Zendy; Gianni Bona | Zendy; Mara Giordano | Zendy

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Functional SNPs within the Intron 1 of the PROP1 Gene Contribute to Combined Growth Hormone Deficiency (CPHD)

Author(s) -

Michela Godi,

Simona Mellone,

Luigi Tiradani,

Rita Marabese,

Claudio Bardelli,

Mariacarolina Salerno,

Flavia Prodam,

Simonetta Bellone,

Antonella Petri,

Patricia MomiglianoRichiardi,

Gianni Bona,

Mara Giordano

Publication year - 2012

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.2012-1527

Subject(s) - allele , haplotype , single nucleotide polymorphism , biology , context (archaeology) , gene , allele frequency , penetrance , genetics , intron , medicine , snp , microbiology and biotechnology , endocrinology , genotype , phenotype , paleontology

Mutations within the PROP1 gene represent one of the main causes of familial combined pituitary hormone deficiency (CPHD). However, most of the cases are sporadic with an unknown genetic cause.

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