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Article

Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India.

Mitochondrion - 1 Mar 2010

Rani Deepa Selvi, Dhandapany Perundurai S, Nallari Pratibha, Govindaraj Periyasamy, Singh Lalji, Thangaraj Kumarasamy

Abstract excerpt

Mutations in PTPN11 gene was responsible for approximately 50% of the Noonan syndrome (NS), however, we did not find any mutation in PTPN11 in any of seven NS patients analysed. Whereas, the complete mtDNA sequencing revealed 146 mutations, of which five, including one heteroplasmic (A11144R; Thr...

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Source

Identifiers

PMID: 20006740
DOI: 10.1016/j.mito.2009.12.146

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20006740-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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