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

Journal of medical genetics

Volumn 42, Issue 6, 2005, Pages

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

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

LIPOPROTEIN; MEMBRANE PROTEIN; METALLOPROTEINASE; NUCLEAR PROTEIN; PRELAMIN A; PROTEIN PRECURSOR; ZMPSTE24 PROTEIN, HUMAN;

CASE REPORT; CELL NUCLEUS; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; LETTER; METABOLISM; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PROGERIA; ULTRASTRUCTURE;

CELL NUCLEUS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; LIPOPROTEINS; MEMBRANE PROTEINS; METALLOPROTEASES; NUCLEAR PROTEINS; PHENOTYPE; PROGERIA; PROTEIN PRECURSORS;

EID: 30844469352     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.029751     Document Type: Letter

References (0)