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Article

Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients.

Human heredity - 1 Jan 2000

Savas S, Gokgoz N, Kayserili H, Ozkinay F, Yuksel-Apak M, Kirdar B

Abstract excerpt

Deletions of the spinal muscular atrophy (SMA)-determining gene, SMN1, NAIP, and a third multicopy gene, BTF2p44tel were investigated in 60 unrelated Turkish SMA patients. SMN1 was deleted for at least exons 7 and 8 in 85% of the Turkish SMA patients. The NAIP gene was deleted in 75 and 33% of type I and type II SMA patients, respectively. Analysis of the 5'end of the BTF2p44tel gene indicated the extension of...

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Source

Identifiers

PMID: 10686493
DOI: 10.1159/000022907

Genes

NAIP
SMN1

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.

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