Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

S. Shackleton; D. T. Smallwood; P. Clayton; L. C. Wilson; A. K. Agarwal; A. Garg; R. C. Trembath

doi:10.1136/jmg.2004.029751

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

S. Shackleton, D. T. Smallwood, P. Clayton, L. C. Wilson, A. K. Agarwal, A. Garg, R. C. Trembath

Research output: Contribution to journal › Letter › peer-review

Original language	English (US)
Pages (from-to)	e36
Journal	Journal of medical genetics
Volume	42
Issue number	6
DOIs	https://doi.org/10.1136/jmg.2004.029751
State	Published - Jun 2005

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1136/jmg.2004.029751

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title = "Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.",

author = "S. Shackleton and Smallwood, {D. T.} and P. Clayton and Wilson, {L. C.} and Agarwal, {A. K.} and A. Garg and Trembath, {R. C.}",

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T1 - Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

AU - Shackleton, S.

AU - Smallwood, D. T.

AU - Clayton, P.

AU - Wilson, L. C.

AU - Agarwal, A. K.

AU - Garg, A.

AU - Trembath, R. C.

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DO - 10.1136/jmg.2004.029751

M3 - Letter

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AN - SCOPUS:30844469352

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SP - e36

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 6

ER -

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

ASJC Scopus subject areas

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