New clinical and molecular insights on Barth syndrome.

Orphanet journal of rare diseases

Volumn 8, Issue 1, 2013, Pages

  Ferri, Lorenzo ^a   Donati, Maria Alice ^b   Funghini, Silvia ^b   Malvagia, Sabrina ^b   Catarzi, Serena ^b   Lugli, Licia ^b   Ragni, Luca ^b   Bertini, Enrico ^b   Vaz, Frédéric M ^b   Cooper, David N ^b   Guerrini, Renzo ^b   Morrone, Amelia ^b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

TAZ PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; BARTH SYNDROME; CARDIOMYOPATHY; DNA SEQUENCE; FEMALE; GENETICS; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INFANT; LACTIC ACIDOSIS; MALE; METABOLISM; MUSCLE HYPOTONIA; MUTATION; NEUTROPENIA; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PREGNANCY;

ACIDOSIS, LACTIC; BARTH SYNDROME; CARDIOMYOPATHIES; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE HYPOTONIA; MUTATION; NEUTROPENIA; PEDIGREE; PREGNANCY; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84884187143     PISSN: None     EISSN: 17501172     Source Type: None    
DOI: 10.1186/1750-1172-8-27     Document Type: Article

References (0)