Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases

Molecular Genetics and Metabolism

Volumn 105, Issue 2, 2012, Pages 270-271

  Pérez, Belén ^a   Nevado, Julián ^b   Lapunzina, Pablo ^b   Gallego, Lorena ^c   Pérez Cerdá, Celia ^c   Merinero, Begoña ^c   Ugarte, Magdalena ^c   Desviat, Lourdes R ^c  

^a CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 13; CHROMOSOME 16; CHROMOSOME 5; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; LETTER; METABOLIC DISORDER; PHOSPHOMANNOMUTASE 2 DEFICIENCY; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

CHROMOSOME ABERRATIONS; CONGENITAL DISORDERS OF GLYCOSYLATION; GENES, RECESSIVE; HOMOCYSTINURIA; HOMOZYGOTE; HUMANS; MICROSATELLITE REPEATS; MUTATION; PATHOLOGY, MOLECULAR; PROPIONIC ACIDEMIA; UNIPARENTAL DISOMY;

EID: 84856111715     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.10.019     Document Type: Letter

References (9)

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