Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).

Science China. Life sciences - 1 Jul 2017

Wang Yi, Gong Chunxiu, Wang Xiou, Qin Miao

Abstract excerpt

We investigated the androgen receptor (AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome (AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed AIS, who presented with severe phenotypes (Prader grade 0-3). Patients and some family members were screened via amplification and sequencing of their AR exons 1-8, including the corresponding...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Androgen-Insensitivity Syndrome
Share to Binding Sites

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation

Share to Receptors, Androgen

Source

Identifiers

PMID: 28624954
DOI: 10.1007/s11427-017-9084-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).PMID 28624954Read ↗

Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.Semantic proximity Read ↗

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients.Semantic proximity Read ↗

Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China.Semantic proximity Read ↗

Genetic Findings in a Cohort of Patients with Androgen Insensitivity SyndromeSemantic proximity Read ↗

Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center.Semantic proximity Read ↗

Novel and recurrent mutations in patients with androgen insensitivity syndromes.Semantic proximity Read ↗

Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant.Semantic proximity Read ↗

Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome.Semantic proximity Read ↗

<strong>Novel</strong> <strong>Missense</strong><strong> Mutation</strong> <strong>in Ligand-Binding Domain of AR Gene Identified in Patient with Androgen Insensitivity Syndrome</strong> <strong>from Ukraine</strong>Semantic proximity Read ↗

Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis.Semantic proximity Read ↗

Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.Semantic proximity Read ↗

Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.