Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: Lessons for carrier diagnosis

Genetics in Medicine

Volumn 8, Issue 4, 2006, Pages 259-262

  Barceló, María Jesús ^a   Alias, Laura ^a   Caselles, Lídia ^a   Robles, Yolanda ^a   Baiget, Montserrat ^a   Tizzano, Eduardo F ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

Carrier diagnosis; Linkage analysis; Quantitative analysis; SMN gene; Spinal muscular atrophy

Indexed keywords

ACCURACY; ARTICLE; CHROMOSOME; CLINICAL ARTICLE; FEMALE; GENE; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; QUANTITATIVE ANALYSIS; RELATIVE; SMN1 GENE;

EID: 33646757554     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000214319.99550.10     Document Type: Article

References (10)

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