Cutis Laxa Type Ii With Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene

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Cutis Laxa Type Ii With Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene Publisher Pubmed

Nouri N^{1, 2} ; Aryani O³ ; Nouri N^{1, 2} ; Kamalidehghan B⁵ ; Houshmand M⁶

Source: Pediatric Dermatology Published:2013

Abstract

A 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. © 2013 Wiley Periodicals, Inc.

Style	Citing Format
MLA	Nouri N, et al.. "Cutis Laxa Type Ii With Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene." Pediatric Dermatology, vol. 30, no. 6, 2013, pp. e265-e267.
APA	Nouri N, Aryani O, Nouri N, Kamalidehghan B, Houshmand M (2013). Cutis Laxa Type Ii With Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene. Pediatric Dermatology, 30(6), e265-e267.
Chicago	Nouri N, Aryani O, Nouri N, Kamalidehghan B, Houshmand M. "Cutis Laxa Type Ii With Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene." Pediatric Dermatology 30, no. 6 (2013): e265-e267.
Harvard	Nouri N et al. (2013) 'Cutis Laxa Type Ii With Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene', Pediatric Dermatology, 30(6), pp. e265-e267.
Vancouver	Nouri N, Aryani O, Nouri N, Kamalidehghan B, Houshmand M. Cutis Laxa Type Ii With Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene. Pediatric Dermatology. 2013;30(6):e265-e267.
BibTex	@article{ author = {Nouri N and Aryani O and Nouri N and Kamalidehghan B and Houshmand M}, title = {Cutis Laxa Type Ii With Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene}, journal = {Pediatric Dermatology}, volume = {30}, number = {6}, pages = {e265-e267}, year = {2013} }
RIS	TY - JOUR AU - Nouri N AU - Aryani O AU - Nouri N AU - Kamalidehghan B AU - Houshmand M TI - Cutis Laxa Type Ii With Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene JO - Pediatric Dermatology VL - 30 IS - 6 SP - e265 EP - e267 PY - 2013 ER -

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