New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalHuman Reproduction
Volume33
Issue number2
Pages (from-to)328-330
Number of pages3
ISSN0268-1161
DOIs
Publication statusPublished - Feb 2018
MoE publication typeA1 Journal article-refereed

Fields of Science

  • congenital hypogonadotropic hypogonadism
  • Kallmann syndrome
  • intron
  • mutation
  • mRNA
  • splicing
  • RT-PCR
  • CONGENITAL HYPOGONADOTROPIC HYPOGONADISM
  • 3123 Gynaecology and paediatrics
  • 3111 Biomedicine

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