Carrier detection in families affected by Duchenne/Becker muscular dystrophy;Hordozóságszurés Duchenne-/Becker- izomdystrophiával érintett családokban

Orvosi Hetilap

Volumn 148, Issue 51, 2007, Pages 2403-2409

  Pikó, Henriett ^a,d   Nagy, Bálint ^b   Balog, Judit ^a   Bán, Zoltán ^b   Herczegfalvi, Ágnes ^c   Karcagi, Veronika ^a  

^a Molekuláris Genetikai és Diagnosztíkai Osztály   (Hungary)

^b SEMMELWEIS UNIVERSITY   (Hungary)

^c Magyar Református Egyház Bethesda Gyermekkórhá z   (Hungary)

^d NONE   (Hungary)

Author keywords

Carrier detection; Duchenne Becker muscular dystrophy; MLPA analyses; Multiplex PCR analyses

Indexed keywords

COMPLEMENTARY DNA; DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CHROMOSOME XP; DISEASE CARRIER; DISEASE SEVERITY; DNA HYBRIDIZATION; DNA PROBE; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE LOCATION; GENETIC TRANSCRIPTION; HETEROZYGOTE DETECTION; HUMAN; HUNGARY; INCIDENCE; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MULTIPLE LIGATION PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; NEUROMUSCULAR DISEASE; NUCLEIC ACID ANALYSIS; PHENOTYPE; POINT MUTATION; QUANTITATIVE ANALYSIS; RECESSIVE INHERITANCE; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; X CHROMOSOME LINKED DISORDER;

EID: 38149080372     PISSN: 00306002     EISSN: 17886120     Source Type: Journal    
DOI: 10.1556/OH.2007.28190     Document Type: Article

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