Mutational analysis of theNPHP4 gene in 250 patients with nephronophthisis-Reference-Cited by-同舟云学术

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Mutational analysis of theNPHP4 gene in 250 patients with nephronophthisis

Published:2005 Issue:4 Volume:25 Page:411-411
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Hoefele Julia,Sudbrak Ralf,Reinhardt Richard,Lehrack Silvia,Hennig Steffen,Imm Anita,Muerb Ulla,Utsch Boris,Attanasio Massimo,O'Toole John F.,Otto Edgar,Hildebrandt Friedhelm

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 51 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis‐4;Journal of Clinical Laboratory Analysis;2024-06

2. Into the Wild: A novel wild-derived inbred strain resource expands the genomic and phenotypic diversity of laboratory mouse models;2023-09-21

3. Genome-wide association study for single nucleotide polymorphism associated with mural and cumulus granulosa cells of PCOS (polycystic ovary syndrome) and non-PCOS patients;Future Journal of Pharmaceutical Sciences;2023-04-04

4. Cystic Diseases of the Kidney;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2023

5. Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies;Frontiers in Genetics;2021-10-05

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