The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis (Q28213469)
scientific article (publication date: August 2001)
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(P1476) "The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis" (language: en)
(P2093) E Sprecher
S Chavanas
J J DiGiovanna
S Amin
K Nielsen
J S Prendiville
R Silverman
N B Esterly
M K Spraker
E Guelig
M L de Luna
M L Williams
B Buehler
E C Siegfried
L Van Maldergem
E Pfendner
S J Bale
J Uitto
G Richard
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description scientific article (publication date: August 2001)

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