P.Pro4Arg mutation in LMNA gene: A new atypical progeria phenotype without metabolism abnormalities

Gene

Volumn 546, Issue 1, 2014, Pages 35-39

  Guo, Hong ^a   Luo, Na ^a   Hao, Fei ^a   Bai, Yun ^a  

^a THIRD MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Atypical progeroid syndrome (APS); Hutchinson Gilford progeria syndrome (HGPS); Lamin A C (LMNA); Mutation; Progeria

Indexed keywords

ARGININE; LAMIN A; LAMIN C; PROLINE;

ADULT; ARTICLE; ATYPICAL PROGEROID SYNDROME; CASE REPORT; CHINESE; EXON; FACE DISORDER; FEMALE; GENE; GENETIC DISORDER; HETEROZYGOTE; HUMAN; HYPERPIGMENTATION; LIPODYSTROPHY; LMNA GENE; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGERIA; SIBLING; TELANGIECTASIA;

AVES;

ATYPICAL PROGEROID SYNDROME (APS); HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS); LAMIN A/C (LMNA); MUTATION; PROGERIA;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; EXONS; FACE; FEMALE; HETEROZYGOTE; HUMANS; LAMIN TYPE A; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PROGERIA; SIBLINGS; YOUNG ADULT;

EID: 84901825550     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.05.042     Document Type: Article

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