Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

Publisher： John Wiley & Sons Inc

E-ISSN： 1365-2265|82|3|429-438

ISSN： 0300-0664

Source： CLINICAL ENDOCRINOLOGY, Vol.82, Iss.3, 2015-03, pp. : 429-438

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

A Nonsense Mutation in FGA g.3807C→T (p.R159X) Causes Afibrinogenaemia in the Homozygous Form

By  

Acta Haematologica, Vol. 121, Iss. 4, 2009-05 ,pp. : 216-217

Karger

Access to resources Recommend Favorite

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate‐ectodermal dysplasia syndrome in an Asian patient

By  

THE JOURNAL OF DERMATOLOGY, Vol. 42, Iss. 7, 2015-07 ,pp. : 715-719

John Wiley & Sons Inc

Access to resources Recommend Favorite

Papillon–Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late‐Onset Periodontitis

By  

PEDIATRIC DERMATOLOGY, Vol. 32, Iss. 2, 2015-03 ,pp. : 292-294

John Wiley & Sons Inc

Access to resources Recommend Favorite

Identification by whole‐exome sequencing of novel mutation c.64C > G in the BTK gene of a fetus with X‐linked agammaglobulinemia

By  

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, Vol. 45, Iss. 6, 2015-06 ,pp. : 753-754

John Wiley & Sons Inc

Access to resources Recommend Favorite

Sulfasalazine disposition in a subject with 376C

By  

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY (ELECTRONIC), Vol. 80, Iss. 5, 2015-11 ,pp. : 1236-1237

John Wiley & Sons Inc

Access to resources Recommend Favorite