Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.

Journal of medical genetics

Volumn 42, Issue 8, 2005, Pages

  Simi, L ^a   Sestini, R ^a   Ferruzzi, P ^a   Gagliano M S ^a   Gensini, F ^a   Mascalchi, M ^a   Guerrini, L ^a   Pratesi, C ^a   Pinzani, P ^a   Nesi, G ^a   Ercolino, T ^a   Genuardi, M ^a   Mannelli, M ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MICROSATELLITE DNA; SDHD PROTEIN, HUMAN; SUCCINATE DEHYDROGENASE;

ADULT; AGED; ARTICLE; CHROMOSOME SEGREGATION; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION; GENETICS; GENOME IMPRINTING; HAPLOTYPE; HETEROZYGOSITY LOSS; HUMAN; ITALY; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PEDIGREE; PHENOTYPE; STOP CODON;

ADULT; AGED; CHROMOSOME SEGREGATION; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; GENOMIC IMPRINTING; HAPLOTYPES; HUMANS; ITALY; LOSS OF HETEROZYGOSITY; MALE; MEMBRANE PROTEINS; MICROSATELLITE REPEATS; MIDDLE AGED; PARAGANGLIOMA; PEDIGREE; PHENOTYPE; SUCCINATE DEHYDROGENASE;

EID: 29144521042     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.030353     Document Type: Article

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