Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

Gene

Volumn 542, Issue 2, 2014, Pages 266-268

  Aggarwal, Shagun ^a,b   Coutinho, Maria Francisca ^b,d,e   Dalal, Ashwin B ^b   Mohamed Nurul Jain, S Jamal ^b   Prata, Maria João ^d,e   Alves, Sandra ^c  

^a NIZAM'S INSTITUTE OF MEDICAL SCIENCES   (India)

^b CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

^c NATIONAL INSTITUTE OF HEALTH   (Portugal)

^d UNIVERSITY OF PORTO   (Portugal)

^e Department of Environmental Engineering   (Portugal)

Author keywords

GNPTAB; Molecular characterization; Mucolipidosis type II alpha beta; Skeletal dysplasia

Indexed keywords

GNPTAB; MOLECULAR CHARACTERIZATION; MUCOLIPIDOSIS TYPE II ALPHA/BETA; SKELETAL DYSPLASIA;

BONE DISEASES, DEVELOPMENTAL; FEMALE; HUMANS; INFANT, NEWBORN; MUCOLIPIDOSES; MUTATION; PREGNANCY; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS); ULTRASONOGRAPHY, PRENATAL;

EID: 84898823924     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.03.053     Document Type: Article

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