Cutis Laxa Type II with Mutation in the Pyrroline‐5‐Carboxylate Reductase 1 Gene
Copyright policy ) Nayereh, Nouri; Omid, Aryani; Narges, Nouri; Behnam, Kamalidehghan; Massoud, Houshmand;
Cutis Laxa Type II with Mutation in the Pyrroline‐5‐Carboxylate Reductase 1 Gene
AbstractA 14‐year‐old Iranian boy with congenital cutis laxa and several other typical autosomal recessive type II features was examined. Mutation analysis of the pyrroline‐5‐carboxylate reductase 1 gene revealed a single‐base deletion (c.345delC) in exon 4 leading to frame shift and premature termination of translation.
- National Institute of Genetic Engineering and Biotechnology Iran (Islamic Republic of)
- Alzahra university hospital Iran (Islamic Republic of)
- University of Malaya Malaysia
- Isfahan University of Medical Sciences Iran (Islamic Republic of)
Male, delta-1-Pyrroline-5-Carboxylate Reductase, Adolescent, Humans, Pyrroline Carboxylate Reductases, Cutis Laxa, Gene Deletion, Skin
Male, delta-1-Pyrroline-5-Carboxylate Reductase, Adolescent, Humans, Pyrroline Carboxylate Reductases, Cutis Laxa, Gene Deletion, Skin
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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