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

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.

Human genetics - 1 Feb 2003

Campos-Xavier Ana Belinda, Saraiva Jorge M, Ribeiro Letícia M, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate autosomal recessive form and autosomal dominant forms of the disease. Most malignant osteopetroses have been ascribed to mutations in the OC116 gene encoding the human a3 subunit of vacuolar H(+)-ATPase. Few cases of autosomal recessive malignant osteopetrosis have been ascribed to...

Read the complete abstract on PubMed

Topics

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

Share to Chloride Channels
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Primers

Share to Genes, Recessive

Share to Microsatellite Repeats

Share to Osteopetrosis

Share to Pedigree

Share to Radiography

Source

Identifiers

PMID: 12522560
DOI: 10.1007/s00439-002-0861-9

Genes

CLCN7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.PMID 12522560Read ↗

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.Semantic proximity Read ↗

CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.Semantic proximity Read ↗

Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.Semantic proximity Read ↗

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.Semantic proximity Read ↗

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.Semantic proximity Read ↗

Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.Semantic proximity Read ↗

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.Semantic proximity Read ↗

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.Semantic proximity Read ↗

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.Semantic proximity Read ↗

Genetics, pathogenesis and complications of osteopetrosis.Semantic proximity Read ↗

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.Semantic proximity Read ↗

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.Semantic proximity Read ↗

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