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Article

Spectrum of small length germline mutations in the RB1 gene.

Human molecular genetics - 1 Dec 1994

Lohmann D R, Brandt B, Höpping W, Passarge E, Horsthemke B

Abstract excerpt

A screening method based on multiplexed automated fragment length analysis of polymerase chain reaction products was used to identify germline mutations in the RB1 gene. By screening 106 unrelated patients with hereditary retinoblastoma, 20 small deletions (1-18 bp) and seven insertions (1-5 bp) were identified. When collating our data with reported mutations, recurrence of small length mutations was observed at...

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Source

Identifiers

PMID: 7881418
DOI: 10.1093/hmg/3.12.2187

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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.

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