X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene

American Journal of Medical Genetics

Volumn 73, Issue 2, 1997, Pages 139-143

  Parenti, Giancarlo ^a   Buttitta, Piera ^b   Meroni, Germana ^c   Franco, Brunella ^c   Bernard, Loris ^c   Rizzolo, Maria Grazia ^a   Brunetti Pierri, Nicola ^a   Ballabio, Andrea ^c   Andria, Generoso ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Di Cristina Hospital   (Italy)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

ARSE gene; Arylsulfatase E; Chondrodysplasia punctata

Indexed keywords

ARYLSULFATASE; CYSTEINE; DNA; GENE PRODUCT; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME XP; ENCHONDRAL OSSIFICATION; FACE MALFORMATION; FOOT MALFORMATION; HAND MALFORMATION; HUMAN; MALE; NEWBORN; POINT MUTATION; PRIORITY JOURNAL; SHORT STATURE; SINGLE STRAND CONFORMATION POLYMORPHISM; SKULL DEFECT; X CHROMOSOME RECESSIVE DISORDER;

ARYLSULFATASES; CHONDRODYSPLASIA PUNCTATA; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; X CHROMOSOME;

EID: 0030783926     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971212)73:2<139::AID-AJMG7>3.0.CO;2-P     Document Type: Article

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