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Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.

Human mutation - 1 Oct 2000

Gat-Yablonski G, Mandel H, Fowler B, Taleb O, Sela B A

Abstract excerpt

This study describes, for the first time, a thorough genetic investigation in Israeli Arab homocystinuric patients. By using a DGGE methodology and sequencing we were able to identify the disease causing mutation in all. Of the mutations that were detected, two are novel: a 785C>G transversion in exon 7 (T262R) and a 5-bp deletion in the 5' of IVS17 including the T in the +2 position that is crucial for correct...

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Identifiers

PMID: 11013450
DOI: 10.1002/1098-1004(200010)16:4<372::AID-HUMU12>3.0.CO;2-J

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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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